rs121913293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.3 | Hereditary cancer predisposing syndrome |
Make rs121913293(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 87952142 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121913293 |
dbSNP (classic) | rs121913293 |
ClinGen | rs121913293 |
ebi | rs121913293 |
HLI | rs121913293 |
Exac | rs121913293 |
Gnomad | rs121913293 |
Varsome | rs121913293 |
LitVar | rs121913293 |
Map | rs121913293 |
PheGenI | rs121913293 |
Biobank | rs121913293 |
1000 genomes | rs121913293 |
hgdp | rs121913293 |
ensembl | rs121913293 |
geneview | rs121913293 |
scholar | rs121913293 |
rs121913293 | |
pharmgkb | rs121913293 |
gwascentral | rs121913293 |
openSNP | rs121913293 |
23andMe | rs121913293 |
SNPshot | rs121913293 |
SNPdbe | rs121913293 |
MSV3d | rs121913293 |
GWAS Ctlg | rs121913293 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121913293(A;A) rs121913293(T;T) |
Alt | rs121913293(A;A) rs121913293(T;T) |
Reference | Rs121913293(C;C) |
Significance | Pathogenic |
Disease | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of brain |
Variation | info |
Gene | PTEN |
CLNDBN | PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of brain |
Reversed | 0 |
HGVS | NC_000010.10:g.89711899C>A; NC_000010.10:g.89711899C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000460834.1, RCV000169890.2, RCV000218276.1, RCV000445192.1, RCV000490574.1, |