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rs1085307116

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome1
Position230669462
GeneCOG2
is asnp
is mentioned by
dbSNPrs1085307116
dbSNP (old)rs1085307116
ClinGenrs1085307116
ebirs1085307116
HLIrs1085307116
Exacrs1085307116
Gnomadrs1085307116
Varsomers1085307116
Maprs1085307116
PheGenIrs1085307116
Biobankrs1085307116
1000 genomesrs1085307116
hgdprs1085307116
ensemblrs1085307116
gopubmedrs1085307116
geneviewrs1085307116
scholarrs1085307116
googlers1085307116
pharmgkbrs1085307116
gwascentralrs1085307116
openSNPrs1085307116
23andMers1085307116
23andMe allrs1085307116
SNPshotrs1085307116
SNPdbers1085307116
MSV3drs1085307116
GWAS Ctlgrs1085307116
Max Magnitude0
ClinVar
Risk rs1085307116(A;A)
Alt rs1085307116(A;A)
Reference Rs1085307116(-;-)
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.230805208dup
CLNSRC OMIM Allelic Variant
CLNACC RCV000477692.1,