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rs111033718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033718(A;A)
Make rs111033718(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648131
GeneGALT
is asnp
is mentioned by
dbSNPrs111033718
ebirs111033718
HLIrs111033718
Exacrs111033718
Varsomers111033718
Maprs111033718
PheGenIrs111033718
hapmaprs111033718
1000 genomesrs111033718
hgdprs111033718
ensemblrs111033718
gopubmedrs111033718
geneviewrs111033718
scholarrs111033718
googlers111033718
pharmgkbrs111033718
gwascentralrs111033718
openSNPrs111033718
23andMers111033718
23andMe allrs111033718
SNP Nexus

SNPshotrs111033718
SNPdbers111033718
MSV3drs111033718
GWAS Ctlgrs111033718
Max Magnitude0
ClinVar
Risk rs111033718(A;A)
Alt rs111033718(A;A)
Reference rs111033718(G;G)
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.34648128G>A
CLNSRC ARUP GALT
CLNACC RCV000022139.1,