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rs1085308062

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome18
Position45930735
GeneEPG5
is asnp
is mentioned by
dbSNPrs1085308062
dbSNP (old)rs1085308062
ClinGenrs1085308062
ebirs1085308062
HLIrs1085308062
Exacrs1085308062
Gnomadrs1085308062
Varsomers1085308062
Maprs1085308062
PheGenIrs1085308062
Biobankrs1085308062
1000 genomesrs1085308062
hgdprs1085308062
ensemblrs1085308062
gopubmedrs1085308062
geneviewrs1085308062
scholarrs1085308062
googlers1085308062
pharmgkbrs1085308062
gwascentralrs1085308062
openSNPrs1085308062
23andMers1085308062
23andMe allrs1085308062
SNPshotrs1085308062
SNPdbers1085308062
MSV3drs1085308062
GWAS Ctlgrs1085308062
Max Magnitude0
ClinVar
Risk rs1085308062(G;G)
Alt rs1085308062(G;G)
Reference Rs1085308062(-;-)
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.43510701_43510702insC
CLNSRC OMIM Allelic Variant
CLNACC RCV000490632.1,