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rs111033812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033812(A;A)
Make rs111033812(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649529
GeneGALT
is asnp
is mentioned by
dbSNPrs111033812
ebirs111033812
HLIrs111033812
Exacrs111033812
Varsomers111033812
Maprs111033812
PheGenIrs111033812
hapmaprs111033812
1000 genomesrs111033812
hgdprs111033812
ensemblrs111033812
gopubmedrs111033812
geneviewrs111033812
scholarrs111033812
googlers111033812
pharmgkbrs111033812
gwascentralrs111033812
openSNPrs111033812
23andMers111033812
23andMe allrs111033812
SNP Nexus

SNPshotrs111033812
SNPdbers111033812
MSV3drs111033812
GWAS Ctlgrs111033812
Max Magnitude0
ClinVar
Risk rs111033812(A;A)
Alt rs111033812(A;A)
Reference Rs111033812(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.34649526C>A
CLNSRC ARUP GALT UniProtKB (protein)
CLNACC RCV000022265.1,