abirT/combined_ophthalmology_validation_dataset

What is the clinical significance of DEL1167000, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of DEL1167000, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for DEL1167000?

The variation length is 3 base pairs.

<s>[INST] How long is the variation length for DEL1167000? [/INST] The variation length is 3 base pairs. </s>

What is the origin for DEL1167000?

The origin is germline.

<s>[INST] What is the origin for DEL1167000? [/INST] The origin is germline. </s>

What is the type of genetic variation for DEL1167000?

The variation is a Deletion.

<s>[INST] What is the type of genetic variation for DEL1167000? [/INST] The variation is a Deletion. </s>

What is the genetic molecular consequence for DEL1167000?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for DEL1167000? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with DUP1174971?

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/RsDUP1174971. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DUP1174971.

<s>[INST] Which condition is asociated with DUP1174971? [/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/RsDUP1174971. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DUP1174971. </s>

In which chromosome is DUP1174971 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is DUP1174971 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the DUP1174971?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the DUP1174971? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of DUP1174971, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of DUP1174971, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for DUP1174971?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for DUP1174971? [/INST] The variation length is 1 base pairs. </s>

What is the origin for DUP1174971?

The origin is germline.

<s>[INST] What is the origin for DUP1174971? [/INST] The origin is germline. </s>

What is the type of genetic variation for DUP1174971?

The variation is a Duplication.

<s>[INST] What is the type of genetic variation for DUP1174971? [/INST] The variation is a Duplication. </s>

What is the genetic molecular consequence for DUP1174971?

The resulting gene consequence is a frameshift variant.

<s>[INST] What is the genetic molecular consequence for DUP1174971? [/INST] The resulting gene consequence is a frameshift variant. </s>

Which condition is asociated with SNV1317600?

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/RsSNV1317600. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1317600.

<s>[INST] Which condition is asociated with SNV1317600? [/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/RsSNV1317600. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1317600. </s>

In which chromosome is SNV1317600 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is SNV1317600 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the SNV1317600?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the SNV1317600? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of SNV1317600, is it benign or pathogenic?

It is Uncertain significance.

<s>[INST] What is the clinical significance of SNV1317600, is it benign or pathogenic? [/INST] It is Uncertain significance. </s>

How long is the variation length for SNV1317600?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1317600? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1317600?

The origin is unknown.

<s>[INST] What is the origin for SNV1317600? [/INST] The origin is unknown. </s>

What is the type of genetic variation for SNV1317600?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1317600? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1317600?

The resulting gene consequence is a missense variant.

<s>[INST] What is the genetic molecular consequence for SNV1317600? [/INST] The resulting gene consequence is a missense variant. </s>

Which condition is asociated with DEL1370733?

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/RsDEL1370733. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL1370733.

<s>[INST] Which condition is asociated with DEL1370733? [/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/RsDEL1370733. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL1370733. </s>

In which chromosome is DEL1370733 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is DEL1370733 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the DEL1370733?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the DEL1370733? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of DEL1370733, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of DEL1370733, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for DEL1370733?

The variation length is 92 base pairs.

<s>[INST] How long is the variation length for DEL1370733? [/INST] The variation length is 92 base pairs. </s>

What is the origin for DEL1370733?

The origin is germline.

<s>[INST] What is the origin for DEL1370733? [/INST] The origin is germline. </s>

What is the type of genetic variation for DEL1370733?

The variation is a Deletion.

<s>[INST] What is the type of genetic variation for DEL1370733? [/INST] The variation is a Deletion. </s>

What is the genetic molecular consequence for DEL1370733?

The resulting gene consequence is a splice donor variant.

<s>[INST] What is the genetic molecular consequence for DEL1370733? [/INST] The resulting gene consequence is a splice donor variant. </s>

Which condition is asociated with SNV1442706?

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/RsSNV1442706. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1442706.

<s>[INST] Which condition is asociated with SNV1442706? [/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/RsSNV1442706. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1442706. </s>

In which chromosome is SNV1442706 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is SNV1442706 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the SNV1442706?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the SNV1442706? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of SNV1442706, is it benign or pathogenic?

It is Uncertain significance.

<s>[INST] What is the clinical significance of SNV1442706, is it benign or pathogenic? [/INST] It is Uncertain significance. </s>

How long is the variation length for SNV1442706?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1442706? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1442706?

The origin is germline.

<s>[INST] What is the origin for SNV1442706? [/INST] The origin is germline. </s>

What is the type of genetic variation for SNV1442706?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1442706? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1442706?

The resulting gene consequence is a missense variant.

<s>[INST] What is the genetic molecular consequence for SNV1442706? [/INST] The resulting gene consequence is a missense variant. </s>

Which condition is asociated with IND1501625?

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/RsIND1501625. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/IND1501625.

<s>[INST] Which condition is asociated with IND1501625? [/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/RsIND1501625. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/IND1501625. </s>

In which chromosome is IND1501625 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is IND1501625 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the IND1501625?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the IND1501625? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of IND1501625, is it benign or pathogenic?

It is Uncertain significance.

<s>[INST] What is the clinical significance of IND1501625, is it benign or pathogenic? [/INST] It is Uncertain significance. </s>

How long is the variation length for IND1501625?

The variation length is 2 base pairs.

<s>[INST] How long is the variation length for IND1501625? [/INST] The variation length is 2 base pairs. </s>

What is the origin for IND1501625?

The origin is germline.

<s>[INST] What is the origin for IND1501625? [/INST] The origin is germline. </s>

What is the type of genetic variation for IND1501625?

The variation is a Indel.

<s>[INST] What is the type of genetic variation for IND1501625? [/INST] The variation is a Indel. </s>

What is the genetic molecular consequence for IND1501625?

The resulting gene consequence is a missense variant.

<s>[INST] What is the genetic molecular consequence for IND1501625? [/INST] The resulting gene consequence is a missense variant. </s>

Which condition is asociated with SNV1615023?

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/RsSNV1615023. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1615023.

<s>[INST] Which condition is asociated with SNV1615023? [/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/RsSNV1615023. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1615023. </s>

In which chromosome is SNV1615023 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is SNV1615023 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the SNV1615023?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the SNV1615023? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of SNV1615023, is it benign or pathogenic?

It is Likely benign.

<s>[INST] What is the clinical significance of SNV1615023, is it benign or pathogenic? [/INST] It is Likely benign. </s>

How long is the variation length for SNV1615023?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1615023? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1615023?

The origin is germline.

<s>[INST] What is the origin for SNV1615023? [/INST] The origin is germline. </s>

What is the type of genetic variation for SNV1615023?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1615023? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1615023?

The resulting gene consequence is a synonymous variant.

<s>[INST] What is the genetic molecular consequence for SNV1615023? [/INST] The resulting gene consequence is a synonymous variant. </s>

Which condition is asociated with SNV1520580?

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/RsSNV1520580. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1520580.

<s>[INST] Which condition is asociated with SNV1520580? [/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/RsSNV1520580. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1520580. </s>

In which chromosome is SNV1520580 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is SNV1520580 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the SNV1520580?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the SNV1520580? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of SNV1520580, is it benign or pathogenic?

It is Likely benign.

<s>[INST] What is the clinical significance of SNV1520580, is it benign or pathogenic? [/INST] It is Likely benign. </s>

How long is the variation length for SNV1520580?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1520580? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1520580?

The origin is germline.

<s>[INST] What is the origin for SNV1520580? [/INST] The origin is germline. </s>

What is the type of genetic variation for SNV1520580?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1520580? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1520580?

The resulting gene consequence is a synonymous variant.

<s>[INST] What is the genetic molecular consequence for SNV1520580? [/INST] The resulting gene consequence is a synonymous variant. </s>

Which condition is asociated with SNV1706443?

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/RsSNV1706443. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1706443.

<s>[INST] Which condition is asociated with SNV1706443? [/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/RsSNV1706443. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1706443. </s>

In which chromosome is SNV1706443 located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is SNV1706443 located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the SNV1706443?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the SNV1706443? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of SNV1706443, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of SNV1706443, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for SNV1706443?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for SNV1706443? [/INST] The variation length is 1 base pairs. </s>

What is the origin for SNV1706443?

The origin is germline.

<s>[INST] What is the origin for SNV1706443? [/INST] The origin is germline. </s>

What is the type of genetic variation for SNV1706443?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for SNV1706443? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for SNV1706443?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for SNV1706443? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS587778849 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/RsRS587778849 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778849 SNP.

<s>[INST] Which condition is asociated with RS587778849 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/RsRS587778849 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778849 SNP. </s>

In which chromosome is RS587778849 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS587778849 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS587778849 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS587778849 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS587778849 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS587778849 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS587778849 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS587778849 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS587778849 SNP?

The origin is somatic.

<s>[INST] What is the origin for RS587778849 SNP? [/INST] The origin is somatic. </s>

What is the type of genetic variation for RS587778849 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS587778849 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS587778849 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS587778849 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS1593457065 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/RsRS1593457065 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457065 SNP.

<s>[INST] Which condition is asociated with RS1593457065 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/RsRS1593457065 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457065 SNP. </s>

In which chromosome is RS1593457065 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS1593457065 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS1593457065 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS1593457065 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS1593457065 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS1593457065 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS1593457065 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS1593457065 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS1593457065 SNP?

The origin is germline.

<s>[INST] What is the origin for RS1593457065 SNP? [/INST] The origin is germline. </s>

What is the type of genetic variation for RS1593457065 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS1593457065 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS1593457065 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS1593457065 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS1948534542 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/RsRS1948534542 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1948534542 SNP.

<s>[INST] Which condition is asociated with RS1948534542 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/RsRS1948534542 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1948534542 SNP. </s>

In which chromosome is RS1948534542 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS1948534542 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS1948534542 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS1948534542 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS1948534542 SNP, is it benign or pathogenic?

It is Pathogenic.

<s>[INST] What is the clinical significance of RS1948534542 SNP, is it benign or pathogenic? [/INST] It is Pathogenic. </s>

How long is the variation length for RS1948534542 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS1948534542 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS1948534542 SNP?

The origin is maternal.

<s>[INST] What is the origin for RS1948534542 SNP? [/INST] The origin is maternal. </s>

What is the type of genetic variation for RS1948534542 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS1948534542 SNP? [/INST] The variation is a single nucleotide variant. </s>

What is the genetic molecular consequence for RS1948534542 SNP?

The resulting gene consequence is a nonsense.

<s>[INST] What is the genetic molecular consequence for RS1948534542 SNP? [/INST] The resulting gene consequence is a nonsense. </s>

Which condition is asociated with RS1131690891 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/RsRS1131690891 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690891 SNP.

<s>[INST] Which condition is asociated with RS1131690891 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/RsRS1131690891 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690891 SNP. </s>

In which chromosome is RS1131690891 SNP located?

It is located in the chromosome 13.

<s>[INST] In which chromosome is RS1131690891 SNP located? [/INST] It is located in the chromosome 13. </s>

Which methods support the evidence found for the RS1131690891 SNP?

Associated methods are: clinical testing.

<s>[INST] Which methods support the evidence found for the RS1131690891 SNP? [/INST] Associated methods are: clinical testing. </s>

What is the clinical significance of RS1131690891 SNP, is it benign or pathogenic?

It is Likely pathogenic.

<s>[INST] What is the clinical significance of RS1131690891 SNP, is it benign or pathogenic? [/INST] It is Likely pathogenic. </s>

How long is the variation length for RS1131690891 SNP?

The variation length is 1 base pairs.

<s>[INST] How long is the variation length for RS1131690891 SNP? [/INST] The variation length is 1 base pairs. </s>

What is the origin for RS1131690891 SNP?

The origin is de novo.

<s>[INST] What is the origin for RS1131690891 SNP? [/INST] The origin is de novo. </s>

What is the type of genetic variation for RS1131690891 SNP?

The variation is a single nucleotide variant.

<s>[INST] What is the type of genetic variation for RS1131690891 SNP? [/INST] The variation is a single nucleotide variant. </s>