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rs111033782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033782(-;-)
Make rs111033782(-;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649059
GeneGALT
is asnp
is mentioned by
dbSNPrs111033782
ebirs111033782
HLIrs111033782
Exacrs111033782
Varsomers111033782
Maprs111033782
PheGenIrs111033782
hapmaprs111033782
1000 genomesrs111033782
hgdprs111033782
ensemblrs111033782
gopubmedrs111033782
geneviewrs111033782
scholarrs111033782
googlers111033782
pharmgkbrs111033782
gwascentralrs111033782
openSNPrs111033782
23andMers111033782
23andMe allrs111033782
SNP Nexus

SNPshotrs111033782
SNPdbers111033782
MSV3drs111033782
GWAS Ctlgrs111033782
Max Magnitude0
ClinVar
Risk rs111033782(;)
Alt rs111033782(;)
Reference rs111033782(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.34649056delT
CLNSRC ClinVar
CLNACC RCV000022227.1,