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rs111033741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033741(C;C)
Make rs111033741(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648419
GeneGALT
is asnp
is mentioned by
dbSNPrs111033741
ebirs111033741
HLIrs111033741
Exacrs111033741
Varsomers111033741
Maprs111033741
PheGenIrs111033741
hapmaprs111033741
1000 genomesrs111033741
hgdprs111033741
ensemblrs111033741
gopubmedrs111033741
geneviewrs111033741
scholarrs111033741
googlers111033741
pharmgkbrs111033741
gwascentralrs111033741
openSNPrs111033741
23andMers111033741
23andMe allrs111033741
SNP Nexus

SNPshotrs111033741
SNPdbers111033741
MSV3drs111033741
GWAS Ctlgrs111033741
Max Magnitude0
ClinVar
Risk rs111033741(C;C)
Alt rs111033741(C;C)
Reference rs111033741(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.34648416T>C
CLNSRC ARUP GALT
CLNACC RCV000022172.1,