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rs111033643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033643(A;A)
Make rs111033643(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34647097
GeneGALT
is asnp
is mentioned by
dbSNPrs111033643
ebirs111033643
HLIrs111033643
Exacrs111033643
Varsomers111033643
Maprs111033643
PheGenIrs111033643
hapmaprs111033643
1000 genomesrs111033643
hgdprs111033643
ensemblrs111033643
gopubmedrs111033643
geneviewrs111033643
scholarrs111033643
googlers111033643
pharmgkbrs111033643
gwascentralrs111033643
openSNPrs111033643
23andMers111033643
23andMe allrs111033643
SNP Nexus

SNPshotrs111033643
SNPdbers111033643
MSV3drs111033643
GWAS Ctlgrs111033643
Max Magnitude0
ClinVar
Risk rs111033643(A;A)
Alt rs111033643(A;A)
Reference rs111033643(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.34647094C>A
CLNSRC ARUP GALT
CLNACC RCV000022049.1,