rs17849079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs17849079(C;T) |
Make rs17849079(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 179234232 |
Gene | PIK3CA |
is a | snp |
is | mentioned by |
dbSNP | rs17849079 |
dbSNP (classic) | rs17849079 |
ClinGen | rs17849079 |
ebi | rs17849079 |
HLI | rs17849079 |
Exac | rs17849079 |
Gnomad | rs17849079 |
Varsome | rs17849079 |
LitVar | rs17849079 |
Map | rs17849079 |
PheGenI | rs17849079 |
Biobank | rs17849079 |
1000 genomes | rs17849079 |
hgdp | rs17849079 |
ensembl | rs17849079 |
geneview | rs17849079 |
scholar | rs17849079 |
rs17849079 | |
pharmgkb | rs17849079 |
gwascentral | rs17849079 |
openSNP | rs17849079 |
23andMe | rs17849079 |
SNPshot | rs17849079 |
SNPdbe | rs17849079 |
MSV3d | rs17849079 |
GWAS Ctlg | rs17849079 |
GMAF | 0.01607 |
Max Magnitude | 0 |
[PMID 19420344] PI3K/Akt pathway mutations in Retinoblastoma
ClinVar | |
---|---|
Risk | rs17849079(T;T) |
Alt | rs17849079(T;T) |
Reference | Rs17849079(C;C) |
Significance | Other |
Disease | not specified Cowden syndrome |
Variation | info |
Gene | PIK3CA |
CLNDBN | not specified Cowden syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.178952020C>T |
CLNSRC | COSMIC |
CLNACC | RCV000038674.3, RCV000469313.1, |