rs267607990
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | Lynch syndrome |
(T;T) | 0 | common in clinvar |
Make rs267607990(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47476362 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607990 |
dbSNP (classic) | rs267607990 |
ClinGen | rs267607990 |
ebi | rs267607990 |
HLI | rs267607990 |
Exac | rs267607990 |
Gnomad | rs267607990 |
Varsome | rs267607990 |
LitVar | rs267607990 |
Map | rs267607990 |
PheGenI | rs267607990 |
Biobank | rs267607990 |
1000 genomes | rs267607990 |
hgdp | rs267607990 |
ensembl | rs267607990 |
geneview | rs267607990 |
scholar | rs267607990 |
rs267607990 | |
pharmgkb | rs267607990 |
gwascentral | rs267607990 |
openSNP | rs267607990 |
23andMe | rs267607990 |
SNPshot | rs267607990 |
SNPdbe | rs267607990 |
MSV3d | rs267607990 |
GWAS Ctlg | rs267607990 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607990(A;A) rs267607990(C;C) |
Alt | rs267607990(A;A) rs267607990(C;C) |
Reference | Rs267607990(T;T) |
Significance | Pathogenic |
Disease | Turcot syndrome Lynch syndrome not specified |
Variation | info |
Gene | MSH2 |
CLNDBN | Turcot syndrome Lynch syndrome not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.47703501T>A; NC_000002.11:g.47703501T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001843.3, RCV000076351.2, RCV000423014.1, |