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rs587776941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776941(A;A)
Make rs587776941(A;C)
ReferenceGRCh38 38.1/142
Chromosome18
Position45925881
GeneEPG5
is asnp
is mentioned by
dbSNPrs587776941
ebirs587776941
HLIrs587776941
Exacrs587776941
Varsomers587776941
Maprs587776941
PheGenIrs587776941
hapmaprs587776941
1000 genomesrs587776941
hgdprs587776941
ensemblrs587776941
gopubmedrs587776941
geneviewrs587776941
scholarrs587776941
googlers587776941
pharmgkbrs587776941
gwascentralrs587776941
openSNPrs587776941
23andMers587776941
23andMe allrs587776941
SNP Nexus

SNPshotrs587776941
SNPdbers587776941
MSV3drs587776941
GWAS Ctlgrs587776941
Max Magnitude0
ClinVar
Risk rs587776941(A,C;A,C)
Alt rs587776941(A,C;A,C)
Reference rs587776941(G;G)
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.43505847C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033117.3,