rs146650273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACTT) | 6.3 | PTEN hamartoma tumor syndrome |
(ACTT;ACTT) | 0 | common/normal |
(TACT;TACT) | 0 | common in clinvar |
Make rs146650273(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 87961047 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs146650273 |
dbSNP (classic) | rs146650273 |
ClinGen | rs146650273 |
ebi | rs146650273 |
HLI | rs146650273 |
Exac | rs146650273 |
Gnomad | rs146650273 |
Varsome | rs146650273 |
LitVar | rs146650273 |
Map | rs146650273 |
PheGenI | rs146650273 |
Biobank | rs146650273 |
1000 genomes | rs146650273 |
hgdp | rs146650273 |
ensembl | rs146650273 |
geneview | rs146650273 |
scholar | rs146650273 |
rs146650273 | |
pharmgkb | rs146650273 |
gwascentral | rs146650273 |
openSNP | rs146650273 |
23andMe | rs146650273 |
SNPshot | rs146650273 |
SNPdbe | rs146650273 |
MSV3d | rs146650273 |
GWAS Ctlg | rs146650273 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs146650273(-;-) |
Alt | rs146650273(-;-) |
Reference | Rs146650273(TACT;TACT) |
Significance | Pathogenic |
Disease | Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89720804_89720807delACTT |
CLNSRC | ClinVar |
CLNACC | RCV000144657.1, RCV000473522.1, RCV000491407.1, |