rs398123330
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTTT) | 6.3 | Hereditary cancer predisposing syndrome |
(CTTT;CTTT) | 0 | common in clinvar |
Make rs398123330(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87961048 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs398123330 |
dbSNP (classic) | rs398123330 |
ClinGen | rs398123330 |
ebi | rs398123330 |
HLI | rs398123330 |
Exac | rs398123330 |
Gnomad | rs398123330 |
Varsome | rs398123330 |
LitVar | rs398123330 |
Map | rs398123330 |
PheGenI | rs398123330 |
Biobank | rs398123330 |
1000 genomes | rs398123330 |
hgdp | rs398123330 |
ensembl | rs398123330 |
geneview | rs398123330 |
scholar | rs398123330 |
rs398123330 | |
pharmgkb | rs398123330 |
gwascentral | rs398123330 |
openSNP | rs398123330 |
23andMe | rs398123330 |
SNPshot | rs398123330 |
SNPdbe | rs398123330 |
MSV3d | rs398123330 |
GWAS Ctlg | rs398123330 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs398123330(-;-) |
Alt | rs398123330(-;-) |
Reference | Rs398123330(CTTT;CTTT) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89720805_89720808delCTTT |
CLNSRC | HGMD |
CLNACC | RCV000078630.4, RCV000491886.1, |