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rs587776933

From SNPedia

Orientationplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs587776933(-;-)
Make rs587776933(-;GAA)
Make rs587776933(GAA;GAA)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position179210291
GenePIK3CA
is asnp
is mentioned by
dbSNPrs587776933
ebirs587776933
HLIrs587776933
Exacrs587776933
Varsomers587776933
Maprs587776933
PheGenIrs587776933
hapmaprs587776933
1000 genomesrs587776933
hgdprs587776933
ensemblrs587776933
gopubmedrs587776933
geneviewrs587776933
scholarrs587776933
googlers587776933
pharmgkbrs587776933
gwascentralrs587776933
openSNPrs587776933
23andMers587776933
23andMe allrs587776933
SNP Nexus

SNPshotrs587776933
SNPdbers587776933
MSV3drs587776933
GWAS Ctlgrs587776933
Max Magnitude0
ClinVar
Risk rs587776933(;)
Alt rs587776933(;)
Reference rs587776933(AGA;AGA)
Significance Pathogenic
Disease Megalencephaly cutis marmorata telangiectatica congenita
Variation info
Gene PIK3CA
CLNDBN Megalencephaly cutis marmorata telangiectatica congenita
Reversed 0
HGVS NC_000003.11:g.178928079_178928081delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032910.5,