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rs777006911

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs777006911(A;A)
Make rs777006911(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position20765636
GenePI4KA
is asnp
is mentioned by
dbSNPrs777006911
ebirs777006911
HLIrs777006911
Exacrs777006911
Varsomers777006911
Maprs777006911
PheGenIrs777006911
hapmaprs777006911
1000 genomesrs777006911
hgdprs777006911
ensemblrs777006911
gopubmedrs777006911
geneviewrs777006911
scholarrs777006911
googlers777006911
pharmgkbrs777006911
gwascentralrs777006911
openSNPrs777006911
23andMers777006911
23andMe allrs777006911
SNP Nexus

SNPshotrs777006911
SNPdbers777006911
MSV3drs777006911
GWAS Ctlgrs777006911
Max Magnitude0
ClinVar
Risk rs777006911(A;A)
Alt rs777006911(A;A)
Reference rs777006911(G;G)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene PI4KA
CLNDBN Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Reversed 0
HGVS NC_000022.10:g.21119924G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190465.3,