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rs111033748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033748(C;C)
Make rs111033748(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648458
GeneGALT
is asnp
is mentioned by
dbSNPrs111033748
ebirs111033748
HLIrs111033748
Exacrs111033748
Varsomers111033748
Maprs111033748
PheGenIrs111033748
hapmaprs111033748
1000 genomesrs111033748
hgdprs111033748
ensemblrs111033748
gopubmedrs111033748
geneviewrs111033748
scholarrs111033748
googlers111033748
pharmgkbrs111033748
gwascentralrs111033748
openSNPrs111033748
23andMers111033748
23andMe allrs111033748
SNP Nexus

SNPshotrs111033748
SNPdbers111033748
MSV3drs111033748
GWAS Ctlgrs111033748
Max Magnitude0
ClinVar
Risk rs111033748(C;C)
Alt rs111033748(C;C)
Reference rs111033748(T;T)
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.34648455T>C
CLNSRC ARUP GALT
CLNACC RCV000022183.1,