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rs111033654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033654(G;T)
Make rs111033654(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647169
GeneGALT
is asnp
is mentioned by
dbSNPrs111033654
ebirs111033654
HLIrs111033654
Exacrs111033654
Varsomers111033654
Maprs111033654
PheGenIrs111033654
hapmaprs111033654
1000 genomesrs111033654
hgdprs111033654
ensemblrs111033654
gopubmedrs111033654
geneviewrs111033654
scholarrs111033654
googlers111033654
pharmgkbrs111033654
gwascentralrs111033654
openSNPrs111033654
23andMers111033654
23andMe allrs111033654
SNP Nexus

SNPshotrs111033654
SNPdbers111033654
MSV3drs111033654
GWAS Ctlgrs111033654
Max Magnitude0
ClinVar
Risk rs111033654(T;T)
Alt rs111033654(T;T)
Reference rs111033654(G;G)
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.34647166G>T
CLNSRC ARUP GALT
CLNACC RCV000022063.1,