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

rs121913279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913279(A;T)
Make rs121913279(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position179234297
GenePIK3CA
is asnp
is mentioned by
dbSNPrs121913279
ebirs121913279
HLIrs121913279
Exacrs121913279
Varsomers121913279
Maprs121913279
PheGenIrs121913279
hapmaprs121913279
1000 genomesrs121913279
hgdprs121913279
ensemblrs121913279
gopubmedrs121913279
geneviewrs121913279
scholarrs121913279
googlers121913279
pharmgkbrs121913279
gwascentralrs121913279
openSNPrs121913279
23andMers121913279
23andMe allrs121913279
SNP Nexus

SNPshotrs121913279
SNPdbers121913279
MSV3drs121913279
GWAS Ctlgrs121913279
Max Magnitude0
OMIM171834
Desc
Variant0001
Relatedalso
OMIM171834
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913279(G,T;G,T)
Alt rs121913279(G,T;G,T)
Reference rs121913279(A;A)
Significance Pathogenic
Disease Breast adenocarcinoma Ovarian epithelial cancer Carcinoma of colon Neoplasm of stomach Hepatocellular carcinoma Non-small cell lung cancer Keratosis Congenital lipomatous overgrowth Neoplasm of ovary PIK3CA Related Overgrowth Spectrum
Variation info
Gene PIK3CA
CLNDBN Breast adenocarcinoma Ovarian epithelial cancer Carcinoma of colon Neoplasm of stomach Hepatocellular carcinoma Non-small cell lung cancer Keratosis, seborrheic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi Neoplasm of ovary PIK3CA Related Overgrowth Spectrum
Reversed 0
HGVS NC_000003.11:g.178952085A>G; NC_000003.11:g.178952085A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014622.5, RCV000014623.5, RCV000014624.4, RCV000014625.4, RCV000014626.5, RCV000014627.6, RCV000014628.5, RCV000024621.7, RCV000154516.1, RCV000201231.1, RCV000014629.4, RCV000032905.6, RCV000201235.1,