rs121909232
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(C;C) | 0 | common in complete genomics |
(C;G) | 6.3 | Hereditary cancer predisposing syndrome |
Make rs121909232(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87952258 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121909232 |
dbSNP (classic) | rs121909232 |
ClinGen | rs121909232 |
ebi | rs121909232 |
HLI | rs121909232 |
Exac | rs121909232 |
Gnomad | rs121909232 |
Varsome | rs121909232 |
LitVar | rs121909232 |
Map | rs121909232 |
PheGenI | rs121909232 |
Biobank | rs121909232 |
1000 genomes | rs121909232 |
hgdp | rs121909232 |
ensembl | rs121909232 |
geneview | rs121909232 |
scholar | rs121909232 |
rs121909232 | |
pharmgkb | rs121909232 |
gwascentral | rs121909232 |
openSNP | rs121909232 |
23andMe | rs121909232 |
SNPshot | rs121909232 |
SNPdbe | rs121909232 |
MSV3d | rs121909232 |
GWAS Ctlg | rs121909232 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121909232(A;A) rs121909232(G;G) |
Alt | rs121909232(A;A) rs121909232(G;G) |
Reference | Rs121909232(C;C) |
Significance | Pathogenic |
Disease | Malignant melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PTEN |
CLNDBN | Malignant melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.89712015C>A; NC_000010.10:g.89712015C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008284.4, RCV000409569.1, RCV000490942.1, RCV000399957.1, |