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rs111033734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033734(A;A)
Make rs111033734(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648344
GeneGALT
is asnp
is mentioned by
dbSNPrs111033734
dbSNP (classic)rs111033734
ClinGenrs111033734
ebirs111033734
HLIrs111033734
Exacrs111033734
Gnomadrs111033734
Varsomers111033734
LitVarrs111033734
Maprs111033734
PheGenIrs111033734
Biobankrs111033734
1000 genomesrs111033734
hgdprs111033734
ensemblrs111033734
geneviewrs111033734
scholarrs111033734
googlers111033734
pharmgkbrs111033734
gwascentralrs111033734
openSNPrs111033734
23andMers111033734
SNPshotrs111033734
SNPdbers111033734
MSV3drs111033734
GWAS Ctlgrs111033734
Max Magnitude0
ClinVar
Risk rs111033734(A;A)
Alt rs111033734(A;A)
Reference Rs111033734(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.34648341G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000022156.1,