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rs111033758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033758(A;A)
Make rs111033758(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648821
GeneGALT
is asnp
is mentioned by
dbSNPrs111033758
ebirs111033758
HLIrs111033758
Exacrs111033758
Varsomers111033758
Maprs111033758
PheGenIrs111033758
hapmaprs111033758
1000 genomesrs111033758
hgdprs111033758
ensemblrs111033758
gopubmedrs111033758
geneviewrs111033758
scholarrs111033758
googlers111033758
pharmgkbrs111033758
gwascentralrs111033758
openSNPrs111033758
23andMers111033758
23andMe allrs111033758
SNP Nexus

SNPshotrs111033758
SNPdbers111033758
MSV3drs111033758
GWAS Ctlgrs111033758
Max Magnitude0
ClinVar
Risk rs111033758(A;A)
Alt rs111033758(A;A)
Reference rs111033758(G;G)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Reversed 0
HGVS NC_000009.11:g.34648818G>A
CLNSRC ARUP GALT
CLNACC RCV000022190.1,