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rs587776939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776939(A;A)
Make rs587776939(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position45901054
GeneEPG5
is asnp
is mentioned by
dbSNPrs587776939
ebirs587776939
HLIrs587776939
Exacrs587776939
Varsomers587776939
Maprs587776939
PheGenIrs587776939
hapmaprs587776939
1000 genomesrs587776939
hgdprs587776939
ensemblrs587776939
gopubmedrs587776939
geneviewrs587776939
scholarrs587776939
googlers587776939
pharmgkbrs587776939
gwascentralrs587776939
openSNPrs587776939
23andMers587776939
23andMe allrs587776939
SNP Nexus

SNPshotrs587776939
SNPdbers587776939
MSV3drs587776939
GWAS Ctlgrs587776939
Max Magnitude0
ClinVar
Risk rs587776939(A,G;A,G)
Alt rs587776939(A,G;A,G)
Reference rs587776939(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.43481019G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033114.3,