rs587776667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.3 | Endometrial carcinoma (indicated) |
(G;G) | 0 | common in clinvar |
(G;T) | 6.3 | Hereditary cancer predisposing syndrome |
Make rs587776667(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 87931090 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs587776667 |
dbSNP (classic) | rs587776667 |
ClinGen | rs587776667 |
ebi | rs587776667 |
HLI | rs587776667 |
Exac | rs587776667 |
Gnomad | rs587776667 |
Varsome | rs587776667 |
LitVar | rs587776667 |
Map | rs587776667 |
PheGenI | rs587776667 |
Biobank | rs587776667 |
1000 genomes | rs587776667 |
hgdp | rs587776667 |
ensembl | rs587776667 |
geneview | rs587776667 |
scholar | rs587776667 |
rs587776667 | |
pharmgkb | rs587776667 |
gwascentral | rs587776667 |
openSNP | rs587776667 |
23andMe | rs587776667 |
SNPshot | rs587776667 |
SNPdbe | rs587776667 |
MSV3d | rs587776667 |
GWAS Ctlg | rs587776667 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs587776667(A;A) rs587776667(C;C) rs587776667(T;T) |
Alt | rs587776667(A;A) rs587776667(C;C) rs587776667(T;T) |
Reference | Rs587776667(G;G) |
Significance | Pathogenic |
Disease | Endometrial carcinoma not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Endometrial carcinoma not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89690847G>A; NC_000010.10:g.89690847G>C; NC_000010.10:g.89690847G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008266.3, RCV000433259.1, RCV000490594.1, RCV000491885.1, RCV000169865.2, |