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rs121908023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908023(A;G)
Make rs121908023(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position111853415
GeneALG9
is asnp
is mentioned by
dbSNPrs121908023
ebirs121908023
HLIrs121908023
Exacrs121908023
Varsomers121908023
Maprs121908023
PheGenIrs121908023
hapmaprs121908023
1000 genomesrs121908023
hgdprs121908023
ensemblrs121908023
gopubmedrs121908023
geneviewrs121908023
scholarrs121908023
googlers121908023
pharmgkbrs121908023
gwascentralrs121908023
openSNPrs121908023
23andMers121908023
23andMe allrs121908023
SNP Nexus

SNPshotrs121908023
SNPdbers121908023
MSV3drs121908023
GWAS Ctlgrs121908023
Max Magnitude0
OMIM606941
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908023(G;G)
Alt rs121908023(G;G)
Reference rs121908023(A;A)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION
Variation info
Gene ALG9
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
Reversed 1
HGVS NC_000011.9:g.111724138T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003947.2,