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rs111033704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033704(A;A)
Make rs111033704(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647916
GeneGALT
is asnp
is mentioned by
dbSNPrs111033704
ebirs111033704
HLIrs111033704
Exacrs111033704
Varsomers111033704
Maprs111033704
PheGenIrs111033704
hapmaprs111033704
1000 genomesrs111033704
hgdprs111033704
ensemblrs111033704
gopubmedrs111033704
geneviewrs111033704
scholarrs111033704
googlers111033704
pharmgkbrs111033704
gwascentralrs111033704
openSNPrs111033704
23andMers111033704
23andMe allrs111033704
SNP Nexus

SNPshotrs111033704
SNPdbers111033704
MSV3drs111033704
GWAS Ctlgrs111033704
Max Magnitude0
ClinVar
Risk rs111033704(A;A)
Alt rs111033704(A;A)
Reference rs111033704(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.34647913G>A
CLNSRC ARUP GALT
CLNACC RCV000022119.1,