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rs121913272

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913272(C;C)
Make rs121913272(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position179210192
GenePIK3CA
is asnp
is mentioned by
dbSNPrs121913272
ebirs121913272
HLIrs121913272
Exacrs121913272
Varsomers121913272
Maprs121913272
PheGenIrs121913272
hapmaprs121913272
1000 genomesrs121913272
hgdprs121913272
ensemblrs121913272
gopubmedrs121913272
geneviewrs121913272
scholarrs121913272
googlers121913272
pharmgkbrs121913272
gwascentralrs121913272
openSNPrs121913272
23andMers121913272
23andMe allrs121913272
SNP Nexus

SNPshotrs121913272
SNPdbers121913272
MSV3drs121913272
GWAS Ctlgrs121913272
Max Magnitude0
ClinVar
Risk rs121913272(C;C)
Alt rs121913272(C;C)
Reference rs121913272(T;T)
Significance Pathogenic
Disease Congenital lipomatous overgrowth Neoplasm of ovary PIK3CA Related Overgrowth Spectrum
Variation info
Gene PIK3CA
CLNDBN Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi Neoplasm of ovary PIK3CA Related Overgrowth Spectrum
Reversed 0
HGVS NC_000003.11:g.178927980T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024623.6, RCV000154512.1, RCV000201232.1,