rs63751640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63751640(A;A) |
Make rs63751640(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47476367 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63751640 |
dbSNP (classic) | rs63751640 |
ClinGen | rs63751640 |
ebi | rs63751640 |
HLI | rs63751640 |
Exac | rs63751640 |
Gnomad | rs63751640 |
Varsome | rs63751640 |
LitVar | rs63751640 |
Map | rs63751640 |
PheGenI | rs63751640 |
Biobank | rs63751640 |
1000 genomes | rs63751640 |
hgdp | rs63751640 |
ensembl | rs63751640 |
geneview | rs63751640 |
scholar | rs63751640 |
rs63751640 | |
pharmgkb | rs63751640 |
gwascentral | rs63751640 |
openSNP | rs63751640 |
23andMe | rs63751640 |
SNPshot | rs63751640 |
SNPdbe | rs63751640 |
MSV3d | rs63751640 |
GWAS Ctlg | rs63751640 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751640(A;A) rs63751640(C;C) rs63751640(T;T) |
Alt | rs63751640(A;A) rs63751640(C;C) rs63751640(T;T) |
Reference | Rs63751640(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47703506G>A; NC_000002.11:g.47703506G>C; NC_000002.11:g.47703506G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076354.2, RCV000076355.2, RCV000076356.2, RCV000491447.1, |