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rs111033846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033846(C;C)
Make rs111033846(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648449
GeneGALT
is asnp
is mentioned by
dbSNPrs111033846
ebirs111033846
HLIrs111033846
Exacrs111033846
Varsomers111033846
Maprs111033846
PheGenIrs111033846
hapmaprs111033846
1000 genomesrs111033846
hgdprs111033846
ensemblrs111033846
gopubmedrs111033846
geneviewrs111033846
scholarrs111033846
googlers111033846
pharmgkbrs111033846
gwascentralrs111033846
openSNPrs111033846
23andMers111033846
23andMe allrs111033846
SNP Nexus

SNPshotrs111033846
SNPdbers111033846
MSV3drs111033846
GWAS Ctlgrs111033846
Max Magnitude0
ClinVar
Risk rs111033846(C;C)
Alt rs111033846(C;C)
Reference rs111033846(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.34648446T>C
CLNSRC ARUP GALT
CLNACC RCV000022181.1,