rs4987188
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs4987188(A;A) |
Make rs4987188(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47416318 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs4987188 |
dbSNP (classic) | rs4987188 |
ClinGen | rs4987188 |
ebi | rs4987188 |
HLI | rs4987188 |
Exac | rs4987188 |
Gnomad | rs4987188 |
Varsome | rs4987188 |
LitVar | rs4987188 |
Map | rs4987188 |
PheGenI | rs4987188 |
Biobank | rs4987188 |
1000 genomes | rs4987188 |
hgdp | rs4987188 |
ensembl | rs4987188 |
geneview | rs4987188 |
scholar | rs4987188 |
rs4987188 | |
pharmgkb | rs4987188 |
gwascentral | rs4987188 |
openSNP | rs4987188 |
23andMe | rs4987188 |
SNPshot | rs4987188 |
SNPdbe | rs4987188 |
MSV3d | rs4987188 |
GWAS Ctlg | rs4987188 |
GMAF | 0.009183 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4987188(A;A) rs4987188(T;T) |
Alt | rs4987188(A;A) rs4987188(T;T) |
Reference | Rs4987188(G;G) |
Significance | Non-pathogenic |
Disease | MSH2 POLYMORPHISM Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | MSH2 POLYMORPHISM Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47643457G>A; NC_000002.11:g.47643457G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001832.2, RCV000030257.6, RCV000034561.3, RCV000121567.3, RCV000144615.1, RCV000157760.5, RCV000131668.3, RCV000203979.1, RCV000410421.1, RCV000482522.1, |
[PMID 17119116] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19389263] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
[PMID 11920] Isolation and partial characterization of an histidine-rich polypeptide from parotid saliva of the monkey, Macaca nemestrina.
[PMID 10469597] Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
[PMID 12624141] Cancer risk in 348 French MSH2 or MLH1 gene carriers.
[PMID 17374836] MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
[PMID 18383312] Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
[PMID 18470917] Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
[PMID 25134804] Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women
[PMID 25804231] Polymorphism of DNA mismatch repair genes in endometrial cancer
[PMID 29181059] Polymorphism of MSH2 Gly322Asp and MLH1 -93G>A in non-familial colon cancer - a case-controlled study.