abirT/combined_ophthalmology_validation_dataset

What is the clinical significance of SNV1860317, is it benign or pathogenic?

It is Uncertain significance.

<s>[INST] What is the clinical significance of SNV1860317, is it benign or pathogenic? [/INST] It is Uncertain significance. </s>

How long is the variation length for SNV1860317?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1860317? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1860317?

The origin is germline.

<s>[INST] What is the origin for SNV1860317? [/INST] The origin is germline. </s>

What is the type of genetic variation for SNV1860317?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1860317? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1860317?

The resulting gene consequence is a intron variant.

<s>[INST] What is the genetic molecular consequence for SNV1860317? [/INST] The resulting gene consequence is a intron variant. </s>

Which condition is asociated with SNV1683998?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1683998. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1683998.

<s>[INST] Which condition is asociated with SNV1683998? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1683998. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1683998. </s>

In which chromosome is SNV1683998 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is SNV1683998 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the SNV1683998?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the SNV1683998? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of SNV1683998, is it benign or pathogenic?

It is Uncertain significance.

<s>[INST] What is the clinical significance of SNV1683998, is it benign or pathogenic? [/INST] It is Uncertain significance. </s>

How long is the variation length for SNV1683998?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1683998? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1683998?

The origin is germline.

<s>[INST] What is the origin for SNV1683998? [/INST] The origin is germline. </s>

What is the type of genetic variation for SNV1683998?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1683998? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1683998?

The resulting gene consequence is a intron variant.

<s>[INST] What is the genetic molecular consequence for SNV1683998? [/INST] The resulting gene consequence is a intron variant. </s>

Which condition is asociated with RS3092891 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS3092891 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS3092891 SNP.

<s>[INST] Which condition is asociated with RS3092891 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS3092891 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS3092891 SNP. </s>

In which chromosome is RS3092891 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS3092891 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS3092891 SNP?

Associated methods are: clinical testing, literature only.

<s>[INST] Which methods support the evidence found for the RS3092891 SNP? [/INST] Associated methods are: clinical testing, literature only. </s>

What is the clinical significance of RS3092891 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS3092891 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS3092891 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS3092891 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS3092891 SNP?

The origin is germline.

<s>[INST] What is the origin for RS3092891 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS3092891 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS3092891 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS3092891 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS3092891 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS137853296 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS137853296 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853296 SNP.

<s>[INST] Which condition is asociated with RS137853296 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS137853296 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853296 SNP. </s>

In which chromosome is RS137853296 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS137853296 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS137853296 SNP?

Associated methods are: clinical testing, literature only.

<s>[INST] Which methods support the evidence found for the RS137853296 SNP? [/INST] Associated methods are: clinical testing, literature only. </s>

What is the clinical significance of RS137853296 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS137853296 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS137853296 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS137853296 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS137853296 SNP?

The origin is germline.

<s>[INST] What is the origin for RS137853296 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS137853296 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS137853296 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS137853296 SNP?

The resulting gene consequence is a missense variant.

<s>[INST] What is the genetic molecular consequence for RS137853296 SNP? [/INST] The resulting gene consequence is a missense variant. </s>

Which condition is asociated with RS137853297 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS137853297 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853297 SNP.

<s>[INST] Which condition is asociated with RS137853297 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS137853297 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853297 SNP. </s>

In which chromosome is RS137853297 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS137853297 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS137853297 SNP?

Associated methods are: literature only.

<s>[INST] Which methods support the evidence found for the RS137853297 SNP? [/INST] Associated methods are: literature only. </s>

What is the clinical significance of RS137853297 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS137853297 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS137853297 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS137853297 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS137853297 SNP?

The origin is germline.

<s>[INST] What is the origin for RS137853297 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS137853297 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS137853297 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS137853297 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS137853297 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS587778864 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778864 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778864 SNP.

<s>[INST] Which condition is asociated with RS587778864 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778864 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778864 SNP. </s>

In which chromosome is RS587778864 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS587778864 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS587778864 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS587778864 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS587778864 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS587778864 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS587778864 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS587778864 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS587778864 SNP?

The origin is somatic.

<s>[INST] What is the origin for RS587778864 SNP? [/INST] The origin is somatic. </s>

What is the type of genetic variation for RS587778864 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS587778864 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS587778864 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS587778864 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS121913305 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913305 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913305 SNP.

<s>[INST] Which condition is asociated with RS121913305 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913305 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913305 SNP. </s>

In which chromosome is RS121913305 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS121913305 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS121913305 SNP?

Associated methods are: clinical testing, literature only.

<s>[INST] Which methods support the evidence found for the RS121913305 SNP? [/INST] Associated methods are: clinical testing, literature only. </s>

What is the clinical significance of RS121913305 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS121913305 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS121913305 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS121913305 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS121913305 SNP?

The origin is germline.

<s>[INST] What is the origin for RS121913305 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS121913305 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS121913305 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS121913305 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS121913305 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS121913296 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913296 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913296 SNP.

<s>[INST] Which condition is asociated with RS121913296 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913296 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913296 SNP. </s>

In which chromosome is RS121913296 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS121913296 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS121913296 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS121913296 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS121913296 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS121913296 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS121913296 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS121913296 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS121913296 SNP?

The origin is somatic.

<s>[INST] What is the origin for RS121913296 SNP? [/INST] The origin is somatic. </s>

What is the type of genetic variation for RS121913296 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS121913296 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS121913296 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS121913296 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS587778870 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778870 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778870 SNP.

<s>[INST] Which condition is asociated with RS587778870 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778870 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778870 SNP. </s>

In which chromosome is RS587778870 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS587778870 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS587778870 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS587778870 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS587778870 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS587778870 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS587778870 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS587778870 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS587778870 SNP?

The origin is somatic.

<s>[INST] What is the origin for RS587778870 SNP? [/INST] The origin is somatic. </s>

What is the type of genetic variation for RS587778870 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS587778870 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS587778870 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS587778870 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS587778852 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778852 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778852 SNP.

<s>[INST] Which condition is asociated with RS587778852 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778852 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778852 SNP. </s>

In which chromosome is RS587778852 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS587778852 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS587778852 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS587778852 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS587778852 SNP, is it benign or pathogenic?

It is Uncertain significance.

<s>[INST] What is the clinical significance of RS587778852 SNP, is it benign or pathogenic? [/INST] It is Uncertain significance. </s>

How long is the variation length for RS587778852 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS587778852 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS587778852 SNP?

The origin is germline.

<s>[INST] What is the origin for RS587778852 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS587778852 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS587778852 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS587778852 SNP?

The resulting gene consequence is a missense variant.

<s>[INST] What is the genetic molecular consequence for RS587778852 SNP? [/INST] The resulting gene consequence is a missense variant. </s>

Which condition is asociated with RS587778869 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778869 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778869 SNP.

<s>[INST] Which condition is asociated with RS587778869 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778869 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778869 SNP. </s>

In which chromosome is RS587778869 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS587778869 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS587778869 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS587778869 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS587778869 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS587778869 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS587778869 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS587778869 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS587778869 SNP?

The origin is somatic.

<s>[INST] What is the origin for RS587778869 SNP? [/INST] The origin is somatic. </s>

What is the type of genetic variation for RS587778869 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS587778869 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS587778869 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS587778869 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS121913303 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913303 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913303 SNP.

<s>[INST] Which condition is asociated with RS121913303 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913303 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913303 SNP. </s>

In which chromosome is RS121913303 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS121913303 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS121913303 SNP?

Associated methods are: research, clinical testing, literature only.

<s>[INST] Which methods support the evidence found for the RS121913303 SNP? [/INST] Associated methods are: research, clinical testing, literature only. </s>

What is the clinical significance of RS121913303 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS121913303 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS121913303 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS121913303 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS121913303 SNP?

The origin is germline.

<s>[INST] What is the origin for RS121913303 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS121913303 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS121913303 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS121913303 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS121913303 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS121913304 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913304 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913304 SNP.

<s>[INST] Which condition is asociated with RS121913304 SNP? [/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS121913304 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS121913304 SNP. </s>

In which chromosome is RS121913304 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS121913304 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS121913304 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS121913304 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS121913304 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS121913304 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS121913304 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS121913304 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS121913304 SNP?

The origin is germline.

<s>[INST] What is the origin for RS121913304 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS121913304 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS121913304 SNP? [/INST] The variation is a single nucleotide variant. </s>