rs63750232
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs63750232(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47476435 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750232 |
dbSNP (classic) | rs63750232 |
ClinGen | rs63750232 |
ebi | rs63750232 |
HLI | rs63750232 |
Exac | rs63750232 |
Gnomad | rs63750232 |
Varsome | rs63750232 |
LitVar | rs63750232 |
Map | rs63750232 |
PheGenI | rs63750232 |
Biobank | rs63750232 |
1000 genomes | rs63750232 |
hgdp | rs63750232 |
ensembl | rs63750232 |
geneview | rs63750232 |
scholar | rs63750232 |
rs63750232 | |
pharmgkb | rs63750232 |
gwascentral | rs63750232 |
openSNP | rs63750232 |
23andMe | rs63750232 |
SNPshot | rs63750232 |
SNPdbe | rs63750232 |
MSV3d | rs63750232 |
GWAS Ctlg | rs63750232 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750232(A;A) rs63750232(C;C) rs63750232(T;T) |
Alt | rs63750232(A;A) rs63750232(C;C) rs63750232(T;T) |
Reference | Rs63750232(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47703574G>A; NC_000002.11:g.47703574G>C; NC_000002.11:g.47703574G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000490901.1, RCV000076380.2, RCV000491588.1, RCV000490880.1, |