rs267608020
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(C;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267608020(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47482778 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608020 |
dbSNP (classic) | rs267608020 |
ClinGen | rs267608020 |
ebi | rs267608020 |
HLI | rs267608020 |
Exac | rs267608020 |
Gnomad | rs267608020 |
Varsome | rs267608020 |
LitVar | rs267608020 |
Map | rs267608020 |
PheGenI | rs267608020 |
Biobank | rs267608020 |
1000 genomes | rs267608020 |
hgdp | rs267608020 |
ensembl | rs267608020 |
geneview | rs267608020 |
scholar | rs267608020 |
rs267608020 | |
pharmgkb | rs267608020 |
gwascentral | rs267608020 |
openSNP | rs267608020 |
23andMe | rs267608020 |
SNPshot | rs267608020 |
SNPdbe | rs267608020 |
MSV3d | rs267608020 |
GWAS Ctlg | rs267608020 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608020(A;A) rs267608020(C;C) rs267608020(T;T) |
Alt | rs267608020(A;A) rs267608020(C;C) rs267608020(T;T) |
Reference | Rs267608020(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.47709917G>A; NC_000002.11:g.47709917G>C; NC_000002.11:g.47709917G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000491804.1, RCV000491490.1, RCV000076525.2, |