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rs111033686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033686(C;T)
Make rs111033686(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647867
GeneGALT
is asnp
is mentioned by
dbSNPrs111033686
ebirs111033686
HLIrs111033686
Exacrs111033686
Varsomers111033686
Maprs111033686
PheGenIrs111033686
hapmaprs111033686
1000 genomesrs111033686
hgdprs111033686
ensemblrs111033686
gopubmedrs111033686
geneviewrs111033686
scholarrs111033686
googlers111033686
pharmgkbrs111033686
gwascentralrs111033686
openSNPrs111033686
23andMers111033686
23andMe allrs111033686
SNP Nexus

SNPshotrs111033686
SNPdbers111033686
MSV3drs111033686
GWAS Ctlgrs111033686
Max Magnitude0
ClinVar
Risk rs111033686(T;T)
Alt rs111033686(T;T)
Reference rs111033686(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.34647864C>T
CLNSRC ARUP GALT
CLNACC RCV000022107.1,