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rs111033849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033849(C;C)
Make rs111033849(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647569
GeneGALT
is asnp
is mentioned by
dbSNPrs111033849
ebirs111033849
HLIrs111033849
Exacrs111033849
Varsomers111033849
Maprs111033849
PheGenIrs111033849
hapmaprs111033849
1000 genomesrs111033849
hgdprs111033849
ensemblrs111033849
gopubmedrs111033849
geneviewrs111033849
scholarrs111033849
googlers111033849
pharmgkbrs111033849
gwascentralrs111033849
openSNPrs111033849
23andMers111033849
23andMe allrs111033849
SNP Nexus

SNPshotrs111033849
SNPdbers111033849
MSV3drs111033849
GWAS Ctlgrs111033849
Max Magnitude0
ClinVar
Risk rs111033849(C;C)
Alt rs111033849(C;C)
Reference rs111033849(T;T)
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.34647566T>C
CLNSRC ARUP GALT
CLNACC RCV000022081.1,