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rs1085307117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome1
Position230690119
GeneCOG2
is asnp
is mentioned by
dbSNPrs1085307117
dbSNP (old)rs1085307117
ClinGenrs1085307117
ebirs1085307117
HLIrs1085307117
Exacrs1085307117
Gnomadrs1085307117
Varsomers1085307117
Maprs1085307117
PheGenIrs1085307117
Biobankrs1085307117
1000 genomesrs1085307117
hgdprs1085307117
ensemblrs1085307117
gopubmedrs1085307117
geneviewrs1085307117
scholarrs1085307117
googlers1085307117
pharmgkbrs1085307117
gwascentralrs1085307117
openSNPrs1085307117
23andMers1085307117
23andMe allrs1085307117
SNPshotrs1085307117
SNPdbers1085307117
MSV3drs1085307117
GWAS Ctlgrs1085307117
Max Magnitude0
ClinVar
Risk rs1085307117(G;G)
Alt rs1085307117(G;G)
Reference Rs1085307117(T;T)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION
Variation info
Gene COG2
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
Reversed 0
HGVS NC_000001.10:g.230825865T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000477726.1,