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rs111033720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033720(A;A)
Make rs111033720(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648143
GeneGALT
is asnp
is mentioned by
dbSNPrs111033720
ebirs111033720
HLIrs111033720
Exacrs111033720
Varsomers111033720
Maprs111033720
PheGenIrs111033720
hapmaprs111033720
1000 genomesrs111033720
hgdprs111033720
ensemblrs111033720
gopubmedrs111033720
geneviewrs111033720
scholarrs111033720
googlers111033720
pharmgkbrs111033720
gwascentralrs111033720
openSNPrs111033720
23andMers111033720
23andMe allrs111033720
SNP Nexus

SNPshotrs111033720
SNPdbers111033720
MSV3drs111033720
GWAS Ctlgrs111033720
Max Magnitude0
ClinVar
Risk rs111033720(A;A)
Alt rs111033720(A;A)
Reference rs111033720(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.34648140G>A
CLNSRC ARUP GALT
CLNACC RCV000022141.1,