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rs111033752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033752(C;C)
Make rs111033752(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648446
GeneGALT
is asnp
is mentioned by
dbSNPrs111033752
ebirs111033752
HLIrs111033752
Exacrs111033752
Varsomers111033752
Maprs111033752
PheGenIrs111033752
hapmaprs111033752
1000 genomesrs111033752
hgdprs111033752
ensemblrs111033752
gopubmedrs111033752
geneviewrs111033752
scholarrs111033752
googlers111033752
pharmgkbrs111033752
gwascentralrs111033752
openSNPrs111033752
23andMers111033752
23andMe allrs111033752
SNP Nexus

SNPshotrs111033752
SNPdbers111033752
MSV3drs111033752
GWAS Ctlgrs111033752
Max Magnitude0
ClinVar
Risk rs111033752(C;C)
Alt rs111033752(C;C)
Reference rs111033752(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.34648443T>C
CLNSRC ARUP GALT
CLNACC RCV000022180.1,