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rs111033763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033763(C;C)
Make rs111033763(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648859
GeneGALT
is asnp
is mentioned by
dbSNPrs111033763
dbSNP (classic)rs111033763
ClinGenrs111033763
ebirs111033763
HLIrs111033763
Exacrs111033763
Gnomadrs111033763
Varsomers111033763
LitVarrs111033763
Maprs111033763
PheGenIrs111033763
Biobankrs111033763
1000 genomesrs111033763
hgdprs111033763
ensemblrs111033763
geneviewrs111033763
scholarrs111033763
googlers111033763
pharmgkbrs111033763
gwascentralrs111033763
openSNPrs111033763
23andMers111033763
SNPshotrs111033763
SNPdbers111033763
MSV3drs111033763
GWAS Ctlgrs111033763
Max Magnitude0
ClinVar
Risk rs111033763(C;C)
Alt rs111033763(C;C)
Reference Rs111033763(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.34648856G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000022204.1,