chr21:46957794:T>C Detail (hg19) (SLC19A1)

Information

Genome

Assembly Position
hg19 chr21:46,957,794-46,957,794
hg38 chr21:45,537,880-45,537,880 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_194255.2:c.80A>G NP_919231.1:p.His27Arg
NM_001205206.1:c.80A>G NP_001192135.1:p.His27Arg
Ensemble ENST00000311124.9:c.80A>G ENST00000311124.9:p.His27Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.441
ToMMo:0.414
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.516

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 600424 OMIM
HGNC 10937 HGNC
Ensembl ENSG00000173638 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65235704 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance no assertion criteria provided gastrointestinal stromal tumor germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Juvenile arthritis ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were assoc... BeFree 22859359 Detail
<0.001 juvenile rheumatoid arthritis ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were assoc... BeFree 22859359 Detail
0.024 Down syndrome We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndro... BeFree 23430030 Detail
0.003 Coronary heart disease Interestingly, all marginally significant SNPs in SLC19A1 are in strong linkage ... BeFree 20718043 Detail
0.014 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.003 Acute lymphocytic leukemia We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.239 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
0.016 Acute lymphocytic leukemia We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.003 hyperhomocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.003 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.029 obesity C677t polymorphism of MTHFR and G80A polymorphism of RFC genes and their relatio... BeFree 21681722 Detail
0.102 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.028 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.337 hyperhomocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.006 Down syndrome We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndro... BeFree 23430030 Detail
<0.001 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.153 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.003 coronary artery disease In view of growing body of evidence favouring the association of aberrations in ... BeFree 22147344 Detail
0.003 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.120 adenoma Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs1... BeFree 21274745 Detail
0.001 breast carcinoma Conversely, for women over 50, the risk of breast cancer development was statist... BeFree 22134752 Detail
0.001 Leukemia, Lymphocytic, Acute, L1 There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: ... BeFree 24367687 Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.130 rheumatoid arthritis We investigated whether polymorphisms in reduced folate carrier (SLC19A1 G80A) a... BeFree 15564880 Detail
0.021 breast carcinoma Conversely, for women over 50, the risk of breast cancer development was statist... BeFree 22134752 Detail
0.016 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.146 Homocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.020 rheumatoid arthritis Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese... BeFree 17965559 Detail
0.003 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
<0.001 Squamous cell carcinoma of the head and neck A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squa... BeFree 20661649 Detail
0.099 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.005 Lymphoma, Non-Hodgkin The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.120 autistic disorder Subsequent log linear analysis of the RFC1 A80G genotype within family trios rev... BeFree 20468076 Detail
0.007 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.010 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.006 Malignant neoplasm of breast Conversely, for women over 50, the risk of breast cancer development was statist... BeFree 22134752 Detail
0.001 Leukemia, Lymphocytic, Acute, L1 In conclusion, the RFC1 G80A polymorphism does not seem to be a good marker of M... BeFree 24597986 Detail
0.132 Precursor Cell Lymphoblastic Leukemia Lymphoma We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.232 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.232 Precursor Cell Lymphoblastic Leukemia Lymphoma We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.096 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.004 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.128 Lymphoma, Non-Hodgkin The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.135 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.003 nephroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.020 rheumatoid arthritis We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A)... BeFree 15457444 Detail
0.010 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
<0.001 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
<0.001 Lymphoma, Large-Cell, Follicular The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
<0.001 neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.016 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.008 spina bifida Although this study did not find an increased spina bifida risk for infants who ... BeFree 11857541 Detail
0.006 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.257 Cerebrovascular accident Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. BeFree 18958479 Detail
<0.001 Homocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.003 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.022 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.003 Acute lymphocytic leukemia This study evaluated the effect of the G80A polymorphism in the RFC1 gene on sur... BeFree 22914600 Detail
0.040 Down syndrome The aim of the present study was to investigate the effect of polymorphisms C677... BeFree 18273817 Detail
0.137 rheumatoid arthritis We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A)... BeFree 15457444 Detail
0.014 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.021 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.003 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.008 Malignant neoplasm of breast Conversely, for women over 50, the risk of breast cancer development was statist... BeFree 22134752 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.015 Precursor Cell Lymphoblastic Leukemia Lymphoma [For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants t... GAD 19020309 Detail
0.005 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.001 attention deficit hyperactivity disorder We hypothesized that ADHD related cognitive deficit could be attributed to abnor... BeFree 25079255 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 esophagitis In addition, there was a trend toward reduced hematological toxicity among patie... BeFree 25041994 Detail
0.019 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.132 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.003 breast carcinoma Conversely, for women over 50, the risk of breast cancer development was statist... BeFree 22134752 Detail
<0.001 Sporadic Breast Carcinoma Reduced folate carrier 1 (RFC1) G80A and methylenetetrahydrofolate reductase (MT... BeFree 21113649 Detail
0.020 rheumatoid arthritis The aim of our study was to characterize the association of clinicopathological ... BeFree 24350725 Detail
0.101 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 Lymphoma, Large-Cell, Follicular The polymorphisms examined and haplotypes generated included thymidylate synthas... BeFree 15198953 Detail
0.035 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 stomatitis In addition, there was a trend toward reduced hematological toxicity among patie... BeFree 25041994 Detail
0.132 Precursor Cell Lymphoblastic Leukemia Lymphoma This study evaluated the effect of the G80A polymorphism in the RFC1 gene on sur... BeFree 22914600 Detail
0.101 Malignant neoplasm of breast Conversely, for women over 50, the risk of breast cancer development was statist... BeFree 22134752 Detail
<0.001 Precursor cell lymphoblastic lymphoma We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.239 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.020 rheumatoid arthritis We investigated whether polymorphisms in reduced folate carrier (SLC19A1 G80A) a... BeFree 15564880 Detail
0.020 rheumatoid arthritis The results of this study suggest that the RFC1 G80A polymorphism may be a usefu... BeFree 22971639 Detail
0.005 Cerebrovascular accident Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. BeFree 18958479 Detail
0.022 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 neuroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
<0.001 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.021 breast carcinoma We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.006 Malignant neoplasm of breast We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.101 Malignant neoplasm of breast We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.003 breast carcinoma We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.003 breast carcinoma We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
0.017 Malignant neoplasm of breast We found three single-nucleotide polymorphisms in those genes associated with LI... BeFree 24130171 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND Gastrointestinal stromal tumor ClinVar Detail
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND methotrexate response - Efficacy ClinVar Detail
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND not provided ClinVar Detail
ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were associated with response ... DisGeNET Detail
ABCB1 rs1045642, ABCC3 rs4793665, and SLC19A1 rs1051266 polymorphisms were associated with response ... DisGeNET Detail
We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with m... DisGeNET Detail
Interestingly, all marginally significant SNPs in SLC19A1 are in strong linkage disequilibrium (r(2)... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
C677t polymorphism of MTHFR and G80A polymorphism of RFC genes and their relation with homocysteine ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with m... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
In view of growing body of evidence favouring the association of aberrations in one-carbon metabolis... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs12482346, and rs28389... DisGeNET Detail
Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... DisGeNET Detail
There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: 1.51-3.15) and SLC19... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
We investigated whether polymorphisms in reduced folate carrier (SLC19A1 G80A) and gamma-glutamyl-hy... DisGeNET Detail
Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese RA patients, while ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
Subsequent log linear analysis of the RFC1 A80G genotype within family trios revealed that the mater... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... DisGeNET Detail
In conclusion, the RFC1 G80A polymorphism does not seem to be a good marker of MTX-related toxicity ... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Although this study did not find an increased spina bifida risk for infants who were heterozygous or... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of re... DisGeNET Detail
The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the ... DisGeNET Detail
We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
[For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL s... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the fola... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
In addition, there was a trend toward reduced hematological toxicity among patients with variants of... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... DisGeNET Detail
Reduced folate carrier 1 (RFC1) G80A and methylenetetrahydrofolate reductase (MTHFR) C677T were asso... DisGeNET Detail
The aim of our study was to characterize the association of clinicopathological variables and the SL... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The polymorphisms examined and haplotypes generated included thymidylate synthase (TYMS 28-bp triple... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
In addition, there was a trend toward reduced hematological toxicity among patients with variants of... DisGeNET Detail
This study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of re... DisGeNET Detail
Conversely, for women over 50, the risk of breast cancer development was statistically associated wi... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
We investigated whether polymorphisms in reduced folate carrier (SLC19A1 G80A) and gamma-glutamyl-hy... DisGeNET Detail
The results of this study suggest that the RFC1 G80A polymorphism may be a useful marker for predict... DisGeNET Detail
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail
We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SL... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1051266 dbSNP
Genome
hg19
Position
chr21:46,957,794-46,957,794
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1185
Mean of sample read depth (HGVD)
39.77
Standard deviation of sample read depth (HGVD)
22.56
Number of reference allele (HGVD)
1326
Number of alternative allele (HGVD)
1044
Allele Frequency (HGVD)
0.44050632911392407
Gene Symbol (HGVD)
SLC19A1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1051266
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4142
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6939
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
East Asian Chromosome Counts (ExAC)
6920
East Asian Allele Counts (ExAC)
3572
East Asian Heterozygous Counts (ExAC)
1966
East Asian Homozygous Counts (ExAC)
803
East Asian Allele Frequency (ExAC)
0.5161849710982659
Chromosome Counts in All Race (ExAC)
96578
Allele Counts in All Race (ExAC)
55723
Heterozygous Counts in All Race (ExAC)
25633
Homozygous Counts in All Race (ExAC)
15045
Allele Frequency in All Race (ExAC)
0.5769740520615461
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