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rs111033834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033834(C;C)
Make rs111033834(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647096
GeneGALT
is asnp
is mentioned by
dbSNPrs111033834
dbSNP (classic)rs111033834
ClinGenrs111033834
ebirs111033834
HLIrs111033834
Exacrs111033834
Gnomadrs111033834
Varsomers111033834
LitVarrs111033834
Maprs111033834
PheGenIrs111033834
Biobankrs111033834
1000 genomesrs111033834
hgdprs111033834
ensemblrs111033834
geneviewrs111033834
scholarrs111033834
googlers111033834
pharmgkbrs111033834
gwascentralrs111033834
openSNPrs111033834
23andMers111033834
SNPshotrs111033834
SNPdbers111033834
MSV3drs111033834
GWAS Ctlgrs111033834
Max Magnitude0
ClinVar
Risk rs111033834(C;C)
Alt rs111033834(C;C)
Reference Rs111033834(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.34647093G>C
CLNSRC ARUP GALT
CLNACC RCV000022048.1,