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rs587776940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776940(A;A)
Make rs587776940(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position45916110
GeneEPG5
is asnp
is mentioned by
dbSNPrs587776940
ebirs587776940
HLIrs587776940
Exacrs587776940
Varsomers587776940
Maprs587776940
PheGenIrs587776940
hapmaprs587776940
1000 genomesrs587776940
hgdprs587776940
ensemblrs587776940
gopubmedrs587776940
geneviewrs587776940
scholarrs587776940
googlers587776940
pharmgkbrs587776940
gwascentralrs587776940
openSNPrs587776940
23andMers587776940
23andMe allrs587776940
SNP Nexus

SNPshotrs587776940
SNPdbers587776940
MSV3drs587776940
GWAS Ctlgrs587776940
Max Magnitude0
ClinVar
Risk rs587776940(A,C;A,C)
Alt rs587776940(A,C;A,C)
Reference rs587776940(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.43496075G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033116.4,