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rs587776942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776942(A;A)
Make rs587776942(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position45867742
GeneEPG5
is asnp
is mentioned by
dbSNPrs587776942
ebirs587776942
HLIrs587776942
Exacrs587776942
Varsomers587776942
Maprs587776942
PheGenIrs587776942
hapmaprs587776942
1000 genomesrs587776942
hgdprs587776942
ensemblrs587776942
gopubmedrs587776942
geneviewrs587776942
scholarrs587776942
googlers587776942
pharmgkbrs587776942
gwascentralrs587776942
openSNPrs587776942
23andMers587776942
23andMe allrs587776942
SNP Nexus

SNPshotrs587776942
SNPdbers587776942
MSV3drs587776942
GWAS Ctlgrs587776942
Max Magnitude0
ClinVar
Risk rs587776942(A;A)
Alt rs587776942(A;A)
Reference rs587776942(G;G)
Significance Pathogenic
Disease Absent corpus callosum cataract immunodeficiency
Variation info
Gene EPG5
CLNDBN Absent corpus callosum cataract immunodeficiency
Reversed 0
HGVS NC_000018.9:g.43447707G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033118.4,