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rs794727073

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727073(A;G)
Make rs794727073(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position5083680
GeneALG1
is asnp
is mentioned by
dbSNPrs794727073
ebirs794727073
HLIrs794727073
Exacrs794727073
Varsomers794727073
Maprs794727073
PheGenIrs794727073
hapmaprs794727073
1000 genomesrs794727073
hgdprs794727073
ensemblrs794727073
gopubmedrs794727073
geneviewrs794727073
scholarrs794727073
googlers794727073
pharmgkbrs794727073
gwascentralrs794727073
openSNPrs794727073
23andMers794727073
23andMe allrs794727073
SNP Nexus

SNPshotrs794727073
SNPdbers794727073
MSV3drs794727073
GWAS Ctlgrs794727073
Max Magnitude0
ClinVar
Risk rs794727073(G;G)
Alt rs794727073(G;G)
Reference rs794727073(A;A)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1K
Variation info
Gene ALG1
CLNDBN Congenital disorder of glycosylation type 1K
Reversed 0
HGVS NC_000016.9:g.5133681A>G
CLNSRC
CLNACC RCV000174389.1,