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rs111033794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033794(C;T)
Make rs111033794(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649479
GeneGALT
is asnp
is mentioned by
dbSNPrs111033794
ebirs111033794
HLIrs111033794
Exacrs111033794
Varsomers111033794
Maprs111033794
PheGenIrs111033794
hapmaprs111033794
1000 genomesrs111033794
hgdprs111033794
ensemblrs111033794
gopubmedrs111033794
geneviewrs111033794
scholarrs111033794
googlers111033794
pharmgkbrs111033794
gwascentralrs111033794
openSNPrs111033794
23andMers111033794
23andMe allrs111033794
SNP Nexus

SNPshotrs111033794
SNPdbers111033794
MSV3drs111033794
GWAS Ctlgrs111033794
Max Magnitude0
ClinVar
Risk rs111033794(T;T)
Alt rs111033794(T;T)
Reference rs111033794(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.34649476C>T
CLNSRC ARUP GALT
CLNACC RCV000022250.1,