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rs111033843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033843(C;C)
Make rs111033843(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648771
GeneGALT
is asnp
is mentioned by
dbSNPrs111033843
dbSNP (classic)rs111033843
ClinGenrs111033843
ebirs111033843
HLIrs111033843
Exacrs111033843
Gnomadrs111033843
Varsomers111033843
LitVarrs111033843
Maprs111033843
PheGenIrs111033843
Biobankrs111033843
1000 genomesrs111033843
hgdprs111033843
ensemblrs111033843
geneviewrs111033843
scholarrs111033843
googlers111033843
pharmgkbrs111033843
gwascentralrs111033843
openSNPrs111033843
23andMers111033843
SNPshotrs111033843
SNPdbers111033843
MSV3drs111033843
GWAS Ctlgrs111033843
Max Magnitude0
ClinVar
Risk rs111033843(C;C)
Alt rs111033843(C;C)
Reference Rs111033843(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.34648768G>C
CLNSRC ARUP GALT
CLNACC RCV000022186.1,