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rs111033638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033638(-;-)
Make rs111033638(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646722
GeneGALT
is asnp
is mentioned by
dbSNPrs111033638
ebirs111033638
HLIrs111033638
Exacrs111033638
Varsomers111033638
Maprs111033638
PheGenIrs111033638
hapmaprs111033638
1000 genomesrs111033638
hgdprs111033638
ensemblrs111033638
gopubmedrs111033638
geneviewrs111033638
scholarrs111033638
googlers111033638
pharmgkbrs111033638
gwascentralrs111033638
openSNPrs111033638
23andMers111033638
23andMe allrs111033638
SNP Nexus

SNPshotrs111033638
SNPdbers111033638
MSV3drs111033638
GWAS Ctlgrs111033638
Max Magnitude0
ClinVar
Risk rs111033638(;)
Alt rs111033638(;)
Reference rs111033638(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.34646719delC
CLNSRC ClinVar
CLNACC RCV000022039.1,