rs587778617
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs587778617(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5987504 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587778617 |
dbSNP (classic) | rs587778617 |
ClinGen | rs587778617 |
ebi | rs587778617 |
HLI | rs587778617 |
Exac | rs587778617 |
Gnomad | rs587778617 |
Varsome | rs587778617 |
LitVar | rs587778617 |
Map | rs587778617 |
PheGenI | rs587778617 |
Biobank | rs587778617 |
1000 genomes | rs587778617 |
hgdp | rs587778617 |
ensembl | rs587778617 |
geneview | rs587778617 |
scholar | rs587778617 |
rs587778617 | |
pharmgkb | rs587778617 |
gwascentral | rs587778617 |
openSNP | rs587778617 |
23andMe | rs587778617 |
SNPshot | rs587778617 |
SNPdbe | rs587778617 |
MSV3d | rs587778617 |
GWAS Ctlg | rs587778617 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587778617(T;T) |
Alt | rs587778617(T;T) |
Reference | Rs587778617(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6027135G>A |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076804.3, RCV000121843.1, RCV000219846.1, RCV000223405.1, |