rs267607939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | Lynch syndrome |
(C;C) | 0 | common in clinvar |
Make rs267607939(C;G) |
Make rs267607939(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47416398 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607939 |
dbSNP (classic) | rs267607939 |
ClinGen | rs267607939 |
ebi | rs267607939 |
HLI | rs267607939 |
Exac | rs267607939 |
Gnomad | rs267607939 |
Varsome | rs267607939 |
LitVar | rs267607939 |
Map | rs267607939 |
PheGenI | rs267607939 |
Biobank | rs267607939 |
1000 genomes | rs267607939 |
hgdp | rs267607939 |
ensembl | rs267607939 |
geneview | rs267607939 |
scholar | rs267607939 |
rs267607939 | |
pharmgkb | rs267607939 |
gwascentral | rs267607939 |
openSNP | rs267607939 |
23andMe | rs267607939 |
SNPshot | rs267607939 |
SNPdbe | rs267607939 |
MSV3d | rs267607939 |
GWAS Ctlg | rs267607939 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607939(A;A) rs267607939(G;G) |
Alt | rs267607939(A;A) rs267607939(G;G) |
Reference | Rs267607939(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Lynch syndrome Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified |
Variation | info |
Gene | MSH2 |
CLNDBN | not provided Lynch syndrome Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.47643537C>A; NC_000002.11:g.47643537C>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000480250.1, RCV000076007.3, RCV000128932.7, RCV000148635.1, RCV000212596.2, |