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rs28940588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940588(A;A)
Make rs28940588(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position184245559
GeneALG3
is asnp
is mentioned by
dbSNPrs28940588
ebirs28940588
HLIrs28940588
Exacrs28940588
Varsomers28940588
Maprs28940588
PheGenIrs28940588
hapmaprs28940588
1000 genomesrs28940588
hgdprs28940588
ensemblrs28940588
gopubmedrs28940588
geneviewrs28940588
scholarrs28940588
googlers28940588
pharmgkbrs28940588
gwascentralrs28940588
openSNPrs28940588
23andMers28940588
23andMe allrs28940588
SNP Nexus

SNPshotrs28940588
SNPdbers28940588
MSV3drs28940588
GWAS Ctlgrs28940588
Max Magnitude0
OMIM608750
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Variant0001
Relatedalso


ClinVar
Risk rs28940588(A;A)
Alt rs28940588(A;A)
Reference rs28940588(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1D
Variation info
Gene ALG3
CLNDBN Congenital disorder of glycosylation type 1D
Reversed 1
HGVS NC_000003.11:g.183963347C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002209.3,