rs63750582
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs63750582(G;T) |
Make rs63750582(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47410217 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750582 |
dbSNP (classic) | rs63750582 |
ClinGen | rs63750582 |
ebi | rs63750582 |
HLI | rs63750582 |
Exac | rs63750582 |
Gnomad | rs63750582 |
Varsome | rs63750582 |
LitVar | rs63750582 |
Map | rs63750582 |
PheGenI | rs63750582 |
Biobank | rs63750582 |
1000 genomes | rs63750582 |
hgdp | rs63750582 |
ensembl | rs63750582 |
geneview | rs63750582 |
scholar | rs63750582 |
rs63750582 | |
pharmgkb | rs63750582 |
gwascentral | rs63750582 |
openSNP | rs63750582 |
23andMe | rs63750582 |
SNPshot | rs63750582 |
SNPdbe | rs63750582 |
MSV3d | rs63750582 |
GWAS Ctlg | rs63750582 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750582(A;A) rs63750582(T;T) |
Alt | rs63750582(A;A) rs63750582(T;T) |
Reference | Rs63750582(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.47637356G>A; NC_000002.11:g.47637356G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000076612.2, RCV000491974.1, RCV000076613.2, RCV000168725.2, RCV000491255.1, |