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rs111033735

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033735(A;A)
Make rs111033735(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648371
GeneGALT
is asnp
is mentioned by
dbSNPrs111033735
dbSNP (classic)rs111033735
ClinGenrs111033735
ebirs111033735
HLIrs111033735
Exacrs111033735
Gnomadrs111033735
Varsomers111033735
LitVarrs111033735
Maprs111033735
PheGenIrs111033735
Biobankrs111033735
1000 genomesrs111033735
hgdprs111033735
ensemblrs111033735
geneviewrs111033735
scholarrs111033735
googlers111033735
pharmgkbrs111033735
gwascentralrs111033735
openSNPrs111033735
23andMers111033735
SNPshotrs111033735
SNPdbers111033735
MSV3drs111033735
GWAS Ctlgrs111033735
Max Magnitude0
ClinVar
Risk rs111033735(A;A)
Alt rs111033735(A;A)
Reference Rs111033735(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.34648368G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000022163.2,