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rs111033833

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033833(A;C)
Make rs111033833(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648404
GeneGALT
is asnp
is mentioned by
dbSNPrs111033833
ebirs111033833
HLIrs111033833
Exacrs111033833
Varsomers111033833
Maprs111033833
PheGenIrs111033833
hapmaprs111033833
1000 genomesrs111033833
hgdprs111033833
ensemblrs111033833
gopubmedrs111033833
geneviewrs111033833
scholarrs111033833
googlers111033833
pharmgkbrs111033833
gwascentralrs111033833
openSNPrs111033833
23andMers111033833
23andMe allrs111033833
SNP Nexus

SNPshotrs111033833
SNPdbers111033833
MSV3drs111033833
GWAS Ctlgrs111033833
Max Magnitude0
ClinVar
Risk rs111033833(C;C)
Alt rs111033833(C;C)
Reference rs111033833(A;A)
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.34648401A>C
CLNSRC ARUP GALT
CLNACC RCV000022171.1,