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rs111033729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033729(G;G)
Make rs111033729(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648363
GeneGALT
is asnp
is mentioned by
dbSNPrs111033729
dbSNP (classic)rs111033729
ClinGenrs111033729
ebirs111033729
HLIrs111033729
Exacrs111033729
Gnomadrs111033729
Varsomers111033729
LitVarrs111033729
Maprs111033729
PheGenIrs111033729
Biobankrs111033729
1000 genomesrs111033729
hgdprs111033729
ensemblrs111033729
geneviewrs111033729
scholarrs111033729
googlers111033729
pharmgkbrs111033729
gwascentralrs111033729
openSNPrs111033729
23andMers111033729
SNPshotrs111033729
SNPdbers111033729
MSV3drs111033729
GWAS Ctlgrs111033729
Max Magnitude0
ClinVar
Risk rs111033729(G;G)
Alt rs111033729(G;G)
Reference Rs111033729(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.34648360T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000022159.1,