instruction
stringlengths 30
82
| output
stringlengths 13
790
|
|---|---|
How long is the variation length for RS1566199059 SNP? | The variation length is 2 base pairs. |
What is the origin for RS1566199059 SNP? | The origin is germline. |
What is the type of genetic variation for RS1566199059 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1566199059 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1566186087 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/RsRS1566186087 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566186087 SNP. |
In which chromosome is RS1566186087 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566186087 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1566186087 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1566186087 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1566186087 SNP? | The origin is germline. |
What is the type of genetic variation for RS1566186087 SNP? | The variation is a Insertion. |
What is the genetic molecular consequence for RS1566186087 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1566233076 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/RsRS1566233076 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566233076 SNP. |
In which chromosome is RS1566233076 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566233076 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1566233076 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1566233076 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1566233076 SNP? | The origin is germline. |
What is the type of genetic variation for RS1566233076 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1566233076 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with DEL568222? | 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/RsDEL568222. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL568222. |
In which chromosome is DEL568222 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL568222? | Associated methods are: clinical testing. |
What is the clinical significance of DEL568222, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL568222? | The variation length is 176179 base pairs. |
What is the origin for DEL568222? | The origin is germline. |
What is the type of genetic variation for DEL568222? | The variation is a Deletion. |
Which condition is asociated with DEL568225? | 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/RsDEL568225. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL568225. |
In which chromosome is DEL568225 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL568225? | Associated methods are: clinical testing. |
What is the clinical significance of DEL568225, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL568225? | The variation length is 132 base pairs. |
What is the origin for DEL568225? | The origin is germline. |
What is the type of genetic variation for DEL568225? | The variation is a Deletion. |
Which condition is asociated with RS1131690842 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/RsRS1131690842 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690842 SNP. |
In which chromosome is RS1131690842 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1131690842 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1131690842 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1131690842 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1131690842 SNP? | The origin is germline. |
What is the type of genetic variation for RS1131690842 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1131690842 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1566174147 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/RsRS1566174147 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566174147 SNP. |
In which chromosome is RS1566174147 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566174147 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1566174147 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1566174147 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1566174147 SNP? | The origin is germline. |
What is the type of genetic variation for RS1566174147 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS1566174147 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1566197747 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/RsRS1566197747 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566197747 SNP. |
In which chromosome is RS1566197747 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566197747 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1566197747 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1566197747 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1566197747 SNP? | The origin is germline. |
What is the type of genetic variation for RS1566197747 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1566197747 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS1593544647 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/RsRS1593544647 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593544647 SNP. |
In which chromosome is RS1593544647 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593544647 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1593544647 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1593544647 SNP? | The variation length is 2 base pairs. |
What is the origin for RS1593544647 SNP? | The origin is germline. |
What is the type of genetic variation for RS1593544647 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1593544647 SNP? | The resulting gene consequence is a splice acceptor variant. |
Which condition is asociated with RS1593412272 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/RsRS1593412272 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593412272 SNP. |
In which chromosome is RS1593412272 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593412272 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1593412272 SNP, is it benign or pathogenic? | It is Uncertain significance. |
How long is the variation length for RS1593412272 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1593412272 SNP? | The origin is germline. |
What is the type of genetic variation for RS1593412272 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1593412272 SNP? | The resulting gene consequence is a missense variant. |
Which condition is asociated with RS1593532101 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/RsRS1593532101 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593532101 SNP. |
In which chromosome is RS1593532101 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593532101 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1593532101 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1593532101 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1593532101 SNP? | The origin is germline. |
What is the type of genetic variation for RS1593532101 SNP? | The variation is a Insertion. |
What is the genetic molecular consequence for RS1593532101 SNP? | The resulting gene consequence is a splice donor variant. |
Which condition is asociated with DEL652514? | 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/RsDEL652514. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL652514. |
In which chromosome is DEL652514 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL652514? | Associated methods are: clinical testing. |
What is the clinical significance of DEL652514, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL652514? | The variation length is 3514 base pairs. |
What is the origin for DEL652514? | The origin is germline. |
What is the type of genetic variation for DEL652514? | The variation is a Deletion. |
Which condition is asociated with RS1593539538 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/RsRS1593539538 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593539538 SNP. |
In which chromosome is RS1593539538 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593539538 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1593539538 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1593539538 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1593539538 SNP? | The origin is germline. |
What is the type of genetic variation for RS1593539538 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS1593539538 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1593457138 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/RsRS1593457138 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457138 SNP. |
In which chromosome is RS1593457138 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593457138 SNP? | Associated methods are: clinical testing. |