rs587781254
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.3 | PTEN hamartoma tumor syndrome |
Make rs587781254(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87933097 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs587781254 |
dbSNP (classic) | rs587781254 |
ClinGen | rs587781254 |
ebi | rs587781254 |
HLI | rs587781254 |
Exac | rs587781254 |
Gnomad | rs587781254 |
Varsome | rs587781254 |
LitVar | rs587781254 |
Map | rs587781254 |
PheGenI | rs587781254 |
Biobank | rs587781254 |
1000 genomes | rs587781254 |
hgdp | rs587781254 |
ensembl | rs587781254 |
geneview | rs587781254 |
scholar | rs587781254 |
rs587781254 | |
pharmgkb | rs587781254 |
gwascentral | rs587781254 |
openSNP | rs587781254 |
23andMe | rs587781254 |
SNPshot | rs587781254 |
SNPdbe | rs587781254 |
MSV3d | rs587781254 |
GWAS Ctlg | rs587781254 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs587781254(T;T) |
Alt | rs587781254(T;T) |
Reference | Rs587781254(G;G) |
Significance | Pathogenic |
Disease | PTEN hamartoma tumor syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | PTEN hamartoma tumor syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89692854G>T |
CLNSRC | |
CLNACC | RCV000128453.1, |