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rs111033660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033660(A;A)
Make rs111033660(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647253
GeneGALT
is asnp
is mentioned by
dbSNPrs111033660
dbSNP (classic)rs111033660
ClinGenrs111033660
ebirs111033660
HLIrs111033660
Exacrs111033660
Gnomadrs111033660
Varsomers111033660
LitVarrs111033660
Maprs111033660
PheGenIrs111033660
Biobankrs111033660
1000 genomesrs111033660
hgdprs111033660
ensemblrs111033660
geneviewrs111033660
scholarrs111033660
googlers111033660
pharmgkbrs111033660
gwascentralrs111033660
openSNPrs111033660
23andMers111033660
SNPshotrs111033660
SNPdbers111033660
MSV3drs111033660
GWAS Ctlgrs111033660
Max Magnitude0
ClinVar
Risk rs111033660(A;A)
Alt rs111033660(A;A)
Reference Rs111033660(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.34647250G>A
CLNSRC ARUP GALT
CLNACC RCV000022072.1,