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rs397514565

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514565(A;A)
Make rs397514565(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position179204576
GenePIK3CA
is asnp
is mentioned by
dbSNPrs397514565
ebirs397514565
HLIrs397514565
Exacrs397514565
Varsomers397514565
Maprs397514565
PheGenIrs397514565
hapmaprs397514565
1000 genomesrs397514565
hgdprs397514565
ensemblrs397514565
gopubmedrs397514565
geneviewrs397514565
scholarrs397514565
googlers397514565
pharmgkbrs397514565
gwascentralrs397514565
openSNPrs397514565
23andMers397514565
23andMe allrs397514565
SNP Nexus

SNPshotrs397514565
SNPdbers397514565
MSV3drs397514565
GWAS Ctlgrs397514565
Max Magnitude0
ClinVar
Risk rs397514565(A;A)
Alt rs397514565(A;A)
Reference rs397514565(G;G)
Significance Pathogenic
Disease Megalencephaly cutis marmorata telangiectatica congenita PIK3CA Related Overgrowth Spectrum
Variation info
Gene PIK3CA
CLNDBN Megalencephaly cutis marmorata telangiectatica congenita PIK3CA Related Overgrowth Spectrum
Reversed 0
HGVS NC_000003.11:g.178922364G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032908.4, RCV000201233.1,