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rs111033716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033716(C;G)
Make rs111033716(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648157
GeneGALT
is asnp
is mentioned by
dbSNPrs111033716
ebirs111033716
HLIrs111033716
Exacrs111033716
Varsomers111033716
Maprs111033716
PheGenIrs111033716
hapmaprs111033716
1000 genomesrs111033716
hgdprs111033716
ensemblrs111033716
gopubmedrs111033716
geneviewrs111033716
scholarrs111033716
googlers111033716
pharmgkbrs111033716
gwascentralrs111033716
openSNPrs111033716
23andMers111033716
23andMe allrs111033716
SNP Nexus

SNPshotrs111033716
SNPdbers111033716
MSV3drs111033716
GWAS Ctlgrs111033716
Max Magnitude0
ClinVar
Risk rs111033716(G;G)
Alt rs111033716(G;G)
Reference rs111033716(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.34648154C>G
CLNSRC ARUP GALT
CLNACC RCV000022145.1,