rs730882131
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.3 | PTEN hamartoma tumor syndrome |
Make rs730882131(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87957999 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs730882131 |
dbSNP (classic) | rs730882131 |
ClinGen | rs730882131 |
ebi | rs730882131 |
HLI | rs730882131 |
Exac | rs730882131 |
Gnomad | rs730882131 |
Varsome | rs730882131 |
LitVar | rs730882131 |
Map | rs730882131 |
PheGenI | rs730882131 |
Biobank | rs730882131 |
1000 genomes | rs730882131 |
hgdp | rs730882131 |
ensembl | rs730882131 |
geneview | rs730882131 |
scholar | rs730882131 |
rs730882131 | |
pharmgkb | rs730882131 |
gwascentral | rs730882131 |
openSNP | rs730882131 |
23andMe | rs730882131 |
SNPshot | rs730882131 |
SNPdbe | rs730882131 |
MSV3d | rs730882131 |
GWAS Ctlg | rs730882131 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs730882131(T;T) |
Alt | rs730882131(T;T) |
Reference | Rs730882131(C;C) |
Significance | Pathogenic |
Disease | PTEN hamartoma tumor syndrome not provided |
Variation | info |
Gene | PTEN |
CLNDBN | PTEN hamartoma tumor syndrome not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.89717756C>T |
CLNSRC | |
CLNACC | RCV000161939.1, RCV000487315.1, |