rs587776673
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(C;C) | 0 | common in clinvar |
Make rs587776673(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 87952132 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs587776673 |
dbSNP (classic) | rs587776673 |
ClinGen | rs587776673 |
ebi | rs587776673 |
HLI | rs587776673 |
Exac | rs587776673 |
Gnomad | rs587776673 |
Varsome | rs587776673 |
LitVar | rs587776673 |
Map | rs587776673 |
PheGenI | rs587776673 |
Biobank | rs587776673 |
1000 genomes | rs587776673 |
hgdp | rs587776673 |
ensembl | rs587776673 |
geneview | rs587776673 |
scholar | rs587776673 |
rs587776673 | |
pharmgkb | rs587776673 |
gwascentral | rs587776673 |
openSNP | rs587776673 |
23andMe | rs587776673 |
SNPshot | rs587776673 |
SNPdbe | rs587776673 |
MSV3d | rs587776673 |
GWAS Ctlg | rs587776673 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs587776673(-;-) |
Alt | rs587776673(-;-) |
Reference | Rs587776673(C;C) |
Significance | Pathogenic |
Disease | Proteus-like syndrome PTEN hamartoma tumor syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Proteus-like syndrome PTEN hamartoma tumor syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89711889delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008292.3, RCV000008293.3, |