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rs1085308061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome18
Position45910719
GeneEPG5
is asnp
is mentioned by
dbSNPrs1085308061
dbSNP (old)rs1085308061
ClinGenrs1085308061
ebirs1085308061
HLIrs1085308061
Exacrs1085308061
Gnomadrs1085308061
Varsomers1085308061
Maprs1085308061
PheGenIrs1085308061
Biobankrs1085308061
1000 genomesrs1085308061
hgdprs1085308061
ensemblrs1085308061
gopubmedrs1085308061
geneviewrs1085308061
scholarrs1085308061
googlers1085308061
pharmgkbrs1085308061
gwascentralrs1085308061
openSNPrs1085308061
23andMers1085308061
23andMe allrs1085308061
SNPshotrs1085308061
SNPdbers1085308061
MSV3drs1085308061
GWAS Ctlgrs1085308061
Max Magnitude0
ClinVar
Risk rs1085308061(A;A)
Alt rs1085308061(A;A)
Reference Rs1085308061(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.43490684C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000490629.1,