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rs111033687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033687(C;C)
Make rs111033687(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647870
GeneGALT
is asnp
is mentioned by
dbSNPrs111033687
ebirs111033687
HLIrs111033687
Exacrs111033687
Varsomers111033687
Maprs111033687
PheGenIrs111033687
hapmaprs111033687
1000 genomesrs111033687
hgdprs111033687
ensemblrs111033687
gopubmedrs111033687
geneviewrs111033687
scholarrs111033687
googlers111033687
pharmgkbrs111033687
gwascentralrs111033687
openSNPrs111033687
23andMers111033687
23andMe allrs111033687
SNP Nexus

SNPshotrs111033687
SNPdbers111033687
MSV3drs111033687
GWAS Ctlgrs111033687
Max Magnitude0
ClinVar
Risk rs111033687(C;C)
Alt rs111033687(C;C)
Reference rs111033687(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.34647867T>C
CLNSRC ARUP GALT
CLNACC RCV000022108.1,