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rs111033791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033791(A;A)
Make rs111033791(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649453
GeneGALT
is asnp
is mentioned by
dbSNPrs111033791
dbSNP (classic)rs111033791
ClinGenrs111033791
ebirs111033791
HLIrs111033791
Exacrs111033791
Gnomadrs111033791
Varsomers111033791
LitVarrs111033791
Maprs111033791
PheGenIrs111033791
Biobankrs111033791
1000 genomesrs111033791
hgdprs111033791
ensemblrs111033791
geneviewrs111033791
scholarrs111033791
googlers111033791
pharmgkbrs111033791
gwascentralrs111033791
openSNPrs111033791
23andMers111033791
SNPshotrs111033791
SNPdbers111033791
MSV3drs111033791
GWAS Ctlgrs111033791
Max Magnitude0
ClinVar
Risk rs111033791(A;A)
Alt rs111033791(A;A)
Reference Rs111033791(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.34649450G>A
CLNSRC ARUP GALT
CLNACC RCV000022236.1,