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rs111033637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033637(C;C)
Make rs111033637(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646731
GeneGALT
is asnp
is mentioned by
dbSNPrs111033637
dbSNP (classic)rs111033637
ClinGenrs111033637
ebirs111033637
HLIrs111033637
Exacrs111033637
Gnomadrs111033637
Varsomers111033637
LitVarrs111033637
Maprs111033637
PheGenIrs111033637
Biobankrs111033637
1000 genomesrs111033637
hgdprs111033637
ensemblrs111033637
geneviewrs111033637
scholarrs111033637
googlers111033637
pharmgkbrs111033637
gwascentralrs111033637
openSNPrs111033637
23andMers111033637
SNPshotrs111033637
SNPdbers111033637
MSV3drs111033637
GWAS Ctlgrs111033637
Max Magnitude0
ClinVar
Risk rs111033637(C;C)
Alt rs111033637(C;C)
Reference Rs111033637(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.34646728G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000022041.1,