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rs111033683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033683(C;C)
Make rs111033683(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647840
GeneGALT
is asnp
is mentioned by
dbSNPrs111033683
ebirs111033683
HLIrs111033683
Exacrs111033683
Varsomers111033683
Maprs111033683
PheGenIrs111033683
hapmaprs111033683
1000 genomesrs111033683
hgdprs111033683
ensemblrs111033683
gopubmedrs111033683
geneviewrs111033683
scholarrs111033683
googlers111033683
pharmgkbrs111033683
gwascentralrs111033683
openSNPrs111033683
23andMers111033683
23andMe allrs111033683
SNP Nexus

SNPshotrs111033683
SNPdbers111033683
MSV3drs111033683
GWAS Ctlgrs111033683
Max Magnitude0
ClinVar
Risk rs111033683(C;C)
Alt rs111033683(C;C)
Reference rs111033683(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.34647837T>C
CLNSRC ARUP GALT
CLNACC RCV000022099.2,