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rs111033798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033798(C;T)
Make rs111033798(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649475
GeneGALT
is asnp
is mentioned by
dbSNPrs111033798
ebirs111033798
HLIrs111033798
Exacrs111033798
Varsomers111033798
Maprs111033798
PheGenIrs111033798
hapmaprs111033798
1000 genomesrs111033798
hgdprs111033798
ensemblrs111033798
gopubmedrs111033798
geneviewrs111033798
scholarrs111033798
googlers111033798
pharmgkbrs111033798
gwascentralrs111033798
openSNPrs111033798
23andMers111033798
23andMe allrs111033798
SNP Nexus

SNPshotrs111033798
SNPdbers111033798
MSV3drs111033798
GWAS Ctlgrs111033798
Max Magnitude0
ClinVar
Risk rs111033798(T;T)
Alt rs111033798(T;T)
Reference rs111033798(C;C)
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.34649472C>T
CLNSRC ARUP GALT
CLNACC RCV000022248.1,