rs1060500122
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 6.3 | PTEN hamartoma tumor syndrome |
Make rs1060500122(T;T) |
Chromosome | 10 |
Position | 87933204 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs1060500122 |
dbSNP (classic) | rs1060500122 |
ClinGen | rs1060500122 |
ebi | rs1060500122 |
HLI | rs1060500122 |
Exac | rs1060500122 |
Gnomad | rs1060500122 |
Varsome | rs1060500122 |
LitVar | rs1060500122 |
Map | rs1060500122 |
PheGenI | rs1060500122 |
Biobank | rs1060500122 |
1000 genomes | rs1060500122 |
hgdp | rs1060500122 |
ensembl | rs1060500122 |
geneview | rs1060500122 |
scholar | rs1060500122 |
rs1060500122 | |
pharmgkb | rs1060500122 |
gwascentral | rs1060500122 |
openSNP | rs1060500122 |
23andMe | rs1060500122 |
SNPshot | rs1060500122 |
SNPdbe | rs1060500122 |
MSV3d | rs1060500122 |
GWAS Ctlg | rs1060500122 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs1060500122(T;T) |
Alt | rs1060500122(T;T) |
Reference | Rs1060500122(C;C) |
Significance | Pathogenic |
Disease | PTEN hamartoma tumor syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | PTEN hamartoma tumor syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89692961C>T |
CLNSRC | |
CLNACC | RCV000458930.1, |