Have questions? Visit https://www.reddit.com/r/SNPedia

rs17849079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs17849079(C;T)
Make rs17849079(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position179234232
GenePIK3CA
is asnp
is mentioned by
dbSNPrs17849079
dbSNP (classic)rs17849079
ClinGenrs17849079
ebirs17849079
HLIrs17849079
Exacrs17849079
Gnomadrs17849079
Varsomers17849079
LitVarrs17849079
Maprs17849079
PheGenIrs17849079
Biobankrs17849079
1000 genomesrs17849079
hgdprs17849079
ensemblrs17849079
geneviewrs17849079
scholarrs17849079
googlers17849079
pharmgkbrs17849079
gwascentralrs17849079
openSNPrs17849079
23andMers17849079
SNPshotrs17849079
SNPdbers17849079
MSV3drs17849079
GWAS Ctlgrs17849079
GMAF0.01607
Max Magnitude0

[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,