rs267607971
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | Possible miscall in Ancestry v2c data; otherwise, Lynch syndrome, pathogenic mutation |
Make rs267607971(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47470963 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607971 |
dbSNP (classic) | rs267607971 |
ClinGen | rs267607971 |
ebi | rs267607971 |
HLI | rs267607971 |
Exac | rs267607971 |
Gnomad | rs267607971 |
Varsome | rs267607971 |
LitVar | rs267607971 |
Map | rs267607971 |
PheGenI | rs267607971 |
Biobank | rs267607971 |
1000 genomes | rs267607971 |
hgdp | rs267607971 |
ensembl | rs267607971 |
geneview | rs267607971 |
scholar | rs267607971 |
rs267607971 | |
pharmgkb | rs267607971 |
gwascentral | rs267607971 |
openSNP | rs267607971 |
23andMe | rs267607971 |
SNPshot | rs267607971 |
SNPdbe | rs267607971 |
MSV3d | rs267607971 |
GWAS Ctlg | rs267607971 |
Max Magnitude | 6 |
aka c.1662-2A>G
ClinVar | |
---|---|
Risk | rs267607971(G;G) |
Alt | rs267607971(G;G) |
Reference | Rs267607971(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47698102A>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076225.2, |