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rs111033817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033817(A;G)
Make rs111033817(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649553
GeneGALT
is asnp
is mentioned by
dbSNPrs111033817
ebirs111033817
HLIrs111033817
Exacrs111033817
Varsomers111033817
Maprs111033817
PheGenIrs111033817
hapmaprs111033817
1000 genomesrs111033817
hgdprs111033817
ensemblrs111033817
gopubmedrs111033817
geneviewrs111033817
scholarrs111033817
googlers111033817
pharmgkbrs111033817
gwascentralrs111033817
openSNPrs111033817
23andMers111033817
23andMe allrs111033817
SNP Nexus

SNPshotrs111033817
SNPdbers111033817
MSV3drs111033817
GWAS Ctlgrs111033817
Max Magnitude0
ClinVar
Risk rs111033817(G;G)
Alt rs111033817(G;G)
Reference rs111033817(A;A)
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.34649550A>G
CLNSRC ARUP GALT
CLNACC RCV000022269.1,