rs281864942
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 6 | Lynch syndrome, pathogenic mutation |
(-;GG) | 6 | Lynch syndrome, pathogenic mutation |
(A;A) | 0 | common in clinvar |
Make rs281864942(GG;GG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47403378 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs281864942 |
dbSNP (classic) | rs281864942 |
ClinGen | rs281864942 |
ebi | rs281864942 |
HLI | rs281864942 |
Exac | rs281864942 |
Gnomad | rs281864942 |
Varsome | rs281864942 |
LitVar | rs281864942 |
Map | rs281864942 |
PheGenI | rs281864942 |
Biobank | rs281864942 |
1000 genomes | rs281864942 |
hgdp | rs281864942 |
ensembl | rs281864942 |
geneview | rs281864942 |
scholar | rs281864942 |
rs281864942 | |
pharmgkb | rs281864942 |
gwascentral | rs281864942 |
openSNP | rs281864942 |
23andMe | rs281864942 |
SNPshot | rs281864942 |
SNPdbe | rs281864942 |
MSV3d | rs281864942 |
GWAS Ctlg | rs281864942 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs281864942(G;G) rs281864942(GG;GG) |
Alt | rs281864942(G;G) rs281864942(GG;GG) |
Reference | Rs281864942(-;-) |
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.47630516_47630517dup; NC_000002.11:g.47630516_47630517dupGG; NC_000002.11:g.47630517dupG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000491030.1, RCV000076308.2, RCV000076311.2, |