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rs111033739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033739(C;T)
Make rs111033739(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648370
GeneGALT
is asnp
is mentioned by
dbSNPrs111033739
ebirs111033739
HLIrs111033739
Exacrs111033739
Varsomers111033739
Maprs111033739
PheGenIrs111033739
hapmaprs111033739
1000 genomesrs111033739
hgdprs111033739
ensemblrs111033739
gopubmedrs111033739
geneviewrs111033739
scholarrs111033739
googlers111033739
pharmgkbrs111033739
gwascentralrs111033739
openSNPrs111033739
23andMers111033739
23andMe allrs111033739
SNP Nexus

SNPshotrs111033739
SNPdbers111033739
MSV3drs111033739
GWAS Ctlgrs111033739
Max Magnitude0
ClinVar
Risk rs111033739(T;T)
Alt rs111033739(T;T)
Reference rs111033739(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.34648367C>T
CLNSRC ARUP GALT
CLNACC RCV000022162.2,