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rs121908294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908294(A;A)
Make rs121908294(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position78112724
GeneALG8
is asnp
is mentioned by
dbSNPrs121908294
ebirs121908294
HLIrs121908294
Exacrs121908294
Varsomers121908294
Maprs121908294
PheGenIrs121908294
hapmaprs121908294
1000 genomesrs121908294
hgdprs121908294
ensemblrs121908294
gopubmedrs121908294
geneviewrs121908294
scholarrs121908294
googlers121908294
pharmgkbrs121908294
gwascentralrs121908294
openSNPrs121908294
23andMers121908294
23andMe allrs121908294
SNP Nexus

SNPshotrs121908294
SNPdbers121908294
MSV3drs121908294
GWAS Ctlgrs121908294
Max Magnitude0
OMIM608103
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908294(A;A)
Alt rs121908294(A;A)
Reference rs121908294(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1H
Variation info
Gene ALG8
CLNDBN Congenital disorder of glycosylation type 1H
Reversed 1
HGVS NC_000011.9:g.77823770C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002672.3,