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rs863225064

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225064(C;T)
Make rs863225064(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position45855683
GeneEPG5
is asnp
is mentioned by
dbSNPrs863225064
ebirs863225064
HLIrs863225064
Exacrs863225064
Varsomers863225064
Maprs863225064
PheGenIrs863225064
hapmaprs863225064
1000 genomesrs863225064
hgdprs863225064
ensemblrs863225064
gopubmedrs863225064
geneviewrs863225064
scholarrs863225064
googlers863225064
pharmgkbrs863225064
gwascentralrs863225064
openSNPrs863225064
23andMers863225064
23andMe allrs863225064
SNP Nexus

SNPshotrs863225064
SNPdbers863225064
MSV3drs863225064
GWAS Ctlgrs863225064
Max Magnitude0
ClinVar
Risk rs863225064(T;T)
Alt rs863225064(T;T)
Reference rs863225064(C;C)
Significance Pathogenic
Disease Absent corpus callosum cataract immunodeficiency
Variation info
Gene EPG5
CLNDBN Absent corpus callosum cataract immunodeficiency
Reversed 1
HGVS NC_000018.9:g.43435648G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201265.2,