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rs111033700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033700(C;C)
Make rs111033700(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647936
GeneGALT
is asnp
is mentioned by
dbSNPrs111033700
ebirs111033700
HLIrs111033700
Exacrs111033700
Varsomers111033700
Maprs111033700
PheGenIrs111033700
hapmaprs111033700
1000 genomesrs111033700
hgdprs111033700
ensemblrs111033700
gopubmedrs111033700
geneviewrs111033700
scholarrs111033700
googlers111033700
pharmgkbrs111033700
gwascentralrs111033700
openSNPrs111033700
23andMers111033700
23andMe allrs111033700
SNP Nexus

SNPshotrs111033700
SNPdbers111033700
MSV3drs111033700
GWAS Ctlgrs111033700
Max Magnitude0
ClinVar
Risk rs111033700(C;C)
Alt rs111033700(C;C)
Reference rs111033700(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.34647933T>C
CLNSRC ARUP GALT
CLNACC RCV000022120.1,