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rs111033742

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033742(-;-)
Make rs111033742(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648421
GeneGALT
is asnp
is mentioned by
dbSNPrs111033742
ebirs111033742
HLIrs111033742
Exacrs111033742
Varsomers111033742
Maprs111033742
PheGenIrs111033742
hapmaprs111033742
1000 genomesrs111033742
hgdprs111033742
ensemblrs111033742
gopubmedrs111033742
geneviewrs111033742
scholarrs111033742
googlers111033742
pharmgkbrs111033742
gwascentralrs111033742
openSNPrs111033742
23andMers111033742
23andMe allrs111033742
SNP Nexus

SNPshotrs111033742
SNPdbers111033742
MSV3drs111033742
GWAS Ctlgrs111033742
Max Magnitude0
ClinVar
Risk rs111033742(;)
Alt rs111033742(;)
Reference rs111033742(C;C)
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.34648418delC
CLNSRC ClinVar
CLNACC RCV000022173.1,