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rs111033759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033759(A;A)
Make rs111033759(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648822
GeneGALT
is asnp
is mentioned by
dbSNPrs111033759
ebirs111033759
HLIrs111033759
Exacrs111033759
Varsomers111033759
Maprs111033759
PheGenIrs111033759
hapmaprs111033759
1000 genomesrs111033759
hgdprs111033759
ensemblrs111033759
gopubmedrs111033759
geneviewrs111033759
scholarrs111033759
googlers111033759
pharmgkbrs111033759
gwascentralrs111033759
openSNPrs111033759
23andMers111033759
23andMe allrs111033759
SNP Nexus

SNPshotrs111033759
SNPdbers111033759
MSV3drs111033759
GWAS Ctlgrs111033759
Max Magnitude0
ClinVar
Risk rs111033759(A;A)
Alt rs111033759(A;A)
Reference rs111033759(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.34648819C>A
CLNSRC ARUP GALT
CLNACC RCV000022191.1,