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rs111033839

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033839(C;C)
Make rs111033839(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648116
GeneGALT
is asnp
is mentioned by
dbSNPrs111033839
ebirs111033839
HLIrs111033839
Exacrs111033839
Varsomers111033839
Maprs111033839
PheGenIrs111033839
hapmaprs111033839
1000 genomesrs111033839
hgdprs111033839
ensemblrs111033839
gopubmedrs111033839
geneviewrs111033839
scholarrs111033839
googlers111033839
pharmgkbrs111033839
gwascentralrs111033839
openSNPrs111033839
23andMers111033839
23andMe allrs111033839
SNP Nexus

SNPshotrs111033839
SNPdbers111033839
MSV3drs111033839
GWAS Ctlgrs111033839
Max Magnitude0
ClinVar
Risk rs111033839(A,C;A,C)
Alt rs111033839(A,C;A,C)
Reference rs111033839(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.34648113T>A; NC_000009.11:g.34648113T>C
CLNSRC ARUP GALT
CLNACC RCV000022136.1, RCV000022135.1,