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rs111033743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033743(C;T)
Make rs111033743(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648388
GeneGALT
is asnp
is mentioned by
dbSNPrs111033743
ebirs111033743
HLIrs111033743
Exacrs111033743
Varsomers111033743
Maprs111033743
PheGenIrs111033743
hapmaprs111033743
1000 genomesrs111033743
hgdprs111033743
ensemblrs111033743
gopubmedrs111033743
geneviewrs111033743
scholarrs111033743
googlers111033743
pharmgkbrs111033743
gwascentralrs111033743
openSNPrs111033743
23andMers111033743
23andMe allrs111033743
SNP Nexus

SNPshotrs111033743
SNPdbers111033743
MSV3drs111033743
GWAS Ctlgrs111033743
Max Magnitude0
ClinVar
Risk rs111033743(T;T)
Alt rs111033743(T;T)
Reference rs111033743(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.34648385C>T
CLNSRC ARUP GALT
CLNACC RCV000022166.1,