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rs111033848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033848(C;T)
Make rs111033848(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34646729
GeneGALT
is asnp
is mentioned by
dbSNPrs111033848
ebirs111033848
HLIrs111033848
Exacrs111033848
Varsomers111033848
Maprs111033848
PheGenIrs111033848
hapmaprs111033848
1000 genomesrs111033848
hgdprs111033848
ensemblrs111033848
gopubmedrs111033848
geneviewrs111033848
scholarrs111033848
googlers111033848
pharmgkbrs111033848
gwascentralrs111033848
openSNPrs111033848
23andMers111033848
23andMe allrs111033848
SNP Nexus

SNPshotrs111033848
SNPdbers111033848
MSV3drs111033848
GWAS Ctlgrs111033848
Max Magnitude0
ClinVar
Risk rs111033848(T;T)
Alt rs111033848(T;T)
Reference rs111033848(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.34646726C>T
CLNSRC ARUP GALT
CLNACC RCV000022040.1,