rs63750214
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | Lynch syndrome, pathogenic mutation |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs63750214(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47410215 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750214 |
dbSNP (classic) | rs63750214 |
ClinGen | rs63750214 |
ebi | rs63750214 |
HLI | rs63750214 |
Exac | rs63750214 |
Gnomad | rs63750214 |
Varsome | rs63750214 |
LitVar | rs63750214 |
Map | rs63750214 |
PheGenI | rs63750214 |
Biobank | rs63750214 |
1000 genomes | rs63750214 |
hgdp | rs63750214 |
ensembl | rs63750214 |
geneview | rs63750214 |
scholar | rs63750214 |
rs63750214 | |
pharmgkb | rs63750214 |
gwascentral | rs63750214 |
openSNP | rs63750214 |
23andMe | rs63750214 |
SNPshot | rs63750214 |
SNPdbe | rs63750214 |
MSV3d | rs63750214 |
GWAS Ctlg | rs63750214 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750214(A;A) rs63750214(C;C) rs63750214(G;G) |
Alt | rs63750214(A;A) rs63750214(C;C) rs63750214(G;G) |
Reference | Rs63750214(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000002.11:g.47637354T>A; NC_000002.11:g.47637354T>C; NC_000002.11:g.47637354T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000076610.2, RCV000492044.1, RCV000221949.1, RCV000076611.2, |