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rs111033830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033830(A;G)
Make rs111033830(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648343
GeneGALT
is asnp
is mentioned by
dbSNPrs111033830
ebirs111033830
HLIrs111033830
Exacrs111033830
Varsomers111033830
Maprs111033830
PheGenIrs111033830
hapmaprs111033830
1000 genomesrs111033830
hgdprs111033830
ensemblrs111033830
gopubmedrs111033830
geneviewrs111033830
scholarrs111033830
googlers111033830
pharmgkbrs111033830
gwascentralrs111033830
openSNPrs111033830
23andMers111033830
23andMe allrs111033830
SNP Nexus

SNPshotrs111033830
SNPdbers111033830
MSV3drs111033830
GWAS Ctlgrs111033830
Max Magnitude0
ClinVar
Risk rs111033830(G;G)
Alt rs111033830(G;G)
Reference rs111033830(A;A)
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.34648340A>G
CLNSRC ARUP GALT
CLNACC RCV000022155.1,