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rs111033783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033783(A;A)
Make rs111033783(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649060
GeneGALT
is asnp
is mentioned by
dbSNPrs111033783
ebirs111033783
HLIrs111033783
Exacrs111033783
Varsomers111033783
Maprs111033783
PheGenIrs111033783
hapmaprs111033783
1000 genomesrs111033783
hgdprs111033783
ensemblrs111033783
gopubmedrs111033783
geneviewrs111033783
scholarrs111033783
googlers111033783
pharmgkbrs111033783
gwascentralrs111033783
openSNPrs111033783
23andMers111033783
23andMe allrs111033783
SNP Nexus

SNPshotrs111033783
SNPdbers111033783
MSV3drs111033783
GWAS Ctlgrs111033783
Max Magnitude0
ClinVar
Risk rs111033783(A;A)
Alt rs111033783(A;A)
Reference rs111033783(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.34649057C>A
CLNSRC ARUP GALT
CLNACC RCV000022228.1,