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rs111033749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033749(C;T)
Make rs111033749(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648765
GeneGALT
is asnp
is mentioned by
dbSNPrs111033749
ebirs111033749
HLIrs111033749
Exacrs111033749
Varsomers111033749
Maprs111033749
PheGenIrs111033749
hapmaprs111033749
1000 genomesrs111033749
hgdprs111033749
ensemblrs111033749
gopubmedrs111033749
geneviewrs111033749
scholarrs111033749
googlers111033749
pharmgkbrs111033749
gwascentralrs111033749
openSNPrs111033749
23andMers111033749
23andMe allrs111033749
SNP Nexus

SNPshotrs111033749
SNPdbers111033749
MSV3drs111033749
GWAS Ctlgrs111033749
Max Magnitude0
ClinVar
Risk rs111033749(T;T)
Alt rs111033749(T;T)
Reference rs111033749(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34648762C>T
CLNSRC ARUP GALT
CLNACC RCV000022184.1, RCV000185919.2,