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rs111033697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033697(C;T)
Make rs111033697(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647882
GeneGALT
is asnp
is mentioned by
dbSNPrs111033697
ebirs111033697
HLIrs111033697
Exacrs111033697
Varsomers111033697
Maprs111033697
PheGenIrs111033697
hapmaprs111033697
1000 genomesrs111033697
hgdprs111033697
ensemblrs111033697
gopubmedrs111033697
geneviewrs111033697
scholarrs111033697
googlers111033697
pharmgkbrs111033697
gwascentralrs111033697
openSNPrs111033697
23andMers111033697
23andMe allrs111033697
SNP Nexus

SNPshotrs111033697
SNPdbers111033697
MSV3drs111033697
GWAS Ctlgrs111033697
Max Magnitude0
ClinVar
Risk rs111033697(T;T)
Alt rs111033697(T;T)
Reference rs111033697(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.34647879C>T
CLNSRC ARUP GALT
CLNACC RCV000022111.1,