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rs587777791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777791(A;A)
Make rs587777791(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position179199740
GenePIK3CA
is asnp
is mentioned by
dbSNPrs587777791
dbSNP (classic)rs587777791
ClinGenrs587777791
ebirs587777791
HLIrs587777791
Exacrs587777791
Gnomadrs587777791
Varsomers587777791
LitVarrs587777791
Maprs587777791
PheGenIrs587777791
Biobankrs587777791
1000 genomesrs587777791
hgdprs587777791
ensemblrs587777791
geneviewrs587777791
scholarrs587777791
googlers587777791
pharmgkbrs587777791
gwascentralrs587777791
openSNPrs587777791
23andMers587777791
SNPshotrs587777791
SNPdbers587777791
MSV3drs587777791
GWAS Ctlgrs587777791
Max Magnitude0
ClinVar
Risk rs587777791(A;A)
Alt rs587777791(A;A)
Reference Rs587777791(G;G)
Significance Pathogenic
Disease Cowden syndrome 5
Variation info
Gene PIK3CA
CLNDBN Cowden syndrome 5
Reversed 0
HGVS NC_000003.11:g.178917528G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144507.2,