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rs794726950

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794726950(A;T)
Make rs794726950(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position39655838
GeneCOG6
is asnp
is mentioned by
dbSNPrs794726950
ebirs794726950
HLIrs794726950
Exacrs794726950
Varsomers794726950
Maprs794726950
PheGenIrs794726950
hapmaprs794726950
1000 genomesrs794726950
hgdprs794726950
ensemblrs794726950
gopubmedrs794726950
geneviewrs794726950
scholarrs794726950
googlers794726950
pharmgkbrs794726950
gwascentralrs794726950
openSNPrs794726950
23andMers794726950
23andMe allrs794726950
SNP Nexus

SNPshotrs794726950
SNPdbers794726950
MSV3drs794726950
GWAS Ctlgrs794726950
Max Magnitude0
ClinVar
Risk rs794726950(T;T)
Alt rs794726950(T;T)
Reference rs794726950(A;A)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2L
Variation info
Gene COG6
CLNDBN Congenital disorder of glycosylation type 2L
Reversed 0
HGVS NC_000013.10:g.40229975A>T
CLNSRC
CLNACC RCV000173507.1,