rs121909241
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.3 | Cowden syndrome (PTEN hamartoma tumor syndrome) |
(G;G) | 0 | common in clinvar |
(G;T) | 6.3 | PTEN hamartoma tumor syndrome |
Make rs121909241(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87933154 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs121909241 |
dbSNP (classic) | rs121909241 |
ClinGen | rs121909241 |
ebi | rs121909241 |
HLI | rs121909241 |
Exac | rs121909241 |
Gnomad | rs121909241 |
Varsome | rs121909241 |
LitVar | rs121909241 |
Map | rs121909241 |
PheGenI | rs121909241 |
Biobank | rs121909241 |
1000 genomes | rs121909241 |
hgdp | rs121909241 |
ensembl | rs121909241 |
geneview | rs121909241 |
scholar | rs121909241 |
rs121909241 | |
pharmgkb | rs121909241 |
gwascentral | rs121909241 |
openSNP | rs121909241 |
23andMe | rs121909241 |
SNPshot | rs121909241 |
SNPdbe | rs121909241 |
MSV3d | rs121909241 |
GWAS Ctlg | rs121909241 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs121909241(A;A) rs121909241(T;T) |
Alt | rs121909241(A;A) rs121909241(T;T) |
Reference | Rs121909241(G;G) |
Significance | Pathogenic |
Disease | not provided not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | not provided not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89692911G>A; NC_000010.10:g.89692911G>T |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000078616.6, RCV000259056.1, RCV000008302.2, RCV000221956.1, RCV000489810.1, |