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rs747119727

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747119727(C;T)
Make rs747119727(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position20713292
GenePI4KA
is asnp
is mentioned by
dbSNPrs747119727
ebirs747119727
HLIrs747119727
Exacrs747119727
Varsomers747119727
Maprs747119727
PheGenIrs747119727
hapmaprs747119727
1000 genomesrs747119727
hgdprs747119727
ensemblrs747119727
gopubmedrs747119727
geneviewrs747119727
scholarrs747119727
googlers747119727
pharmgkbrs747119727
gwascentralrs747119727
openSNPrs747119727
23andMers747119727
23andMe allrs747119727
SNP Nexus

SNPshotrs747119727
SNPdbers747119727
MSV3drs747119727
GWAS Ctlgrs747119727
Max Magnitude0
ClinVar
Risk rs747119727(T;T)
Alt rs747119727(T;T)
Reference rs747119727(C;C)
Significance Pathogenic
Disease Polymicrogyria
Variation info
Gene PI4KA
CLNDBN Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Reversed 0
HGVS NC_000022.10:g.21067580C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190466.3,