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rs587777795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs587777795(C;C)
Make rs587777795(C;GT)
ReferenceGRCh38 38.1/142
Chromosome3
Position179218328
GenePIK3CA
is asnp
is mentioned by
dbSNPrs587777795
ebirs587777795
HLIrs587777795
Exacrs587777795
Varsomers587777795
Maprs587777795
PheGenIrs587777795
hapmaprs587777795
1000 genomesrs587777795
hgdprs587777795
ensemblrs587777795
gopubmedrs587777795
geneviewrs587777795
scholarrs587777795
googlers587777795
pharmgkbrs587777795
gwascentralrs587777795
openSNPrs587777795
23andMers587777795
23andMe allrs587777795
SNP Nexus

SNPshotrs587777795
SNPdbers587777795
MSV3drs587777795
GWAS Ctlgrs587777795
Max Magnitude0
ClinVar
Risk rs587777795(C;C)
Alt rs587777795(C;C)
Reference rs587777795(GT;GT)
Significance Pathogenic
Disease Cowden syndrome 5
Variation info
Gene PIK3CA
CLNDBN Cowden syndrome 5
Reversed 0
HGVS NC_000003.12:g.179218328_179218329delGTinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144511.2,