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rs587777792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777792(A;A)
Make rs587777792(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position179201379
GenePIK3CA
is asnp
is mentioned by
dbSNPrs587777792
dbSNP (classic)rs587777792
ClinGenrs587777792
ebirs587777792
HLIrs587777792
Exacrs587777792
Gnomadrs587777792
Varsomers587777792
LitVarrs587777792
Maprs587777792
PheGenIrs587777792
Biobankrs587777792
1000 genomesrs587777792
hgdprs587777792
ensemblrs587777792
geneviewrs587777792
scholarrs587777792
googlers587777792
pharmgkbrs587777792
gwascentralrs587777792
openSNPrs587777792
23andMers587777792
SNPshotrs587777792
SNPdbers587777792
MSV3drs587777792
GWAS Ctlgrs587777792
Max Magnitude0
ClinVar
Risk rs587777792(A;A)
Alt rs587777792(A;A)
Reference Rs587777792(G;G)
Significance Pathogenic
Disease Cowden syndrome 5
Variation info
Gene PIK3CA
CLNDBN Cowden syndrome 5
Reversed 0
HGVS NC_000003.11:g.178919167G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144508.2,