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rs111033821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033821(C;T)
Make rs111033821(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649620
GeneGALT
is asnp
is mentioned by
dbSNPrs111033821
ebirs111033821
HLIrs111033821
Exacrs111033821
Varsomers111033821
Maprs111033821
PheGenIrs111033821
hapmaprs111033821
1000 genomesrs111033821
hgdprs111033821
ensemblrs111033821
gopubmedrs111033821
geneviewrs111033821
scholarrs111033821
googlers111033821
pharmgkbrs111033821
gwascentralrs111033821
openSNPrs111033821
23andMers111033821
23andMe allrs111033821
SNP Nexus

SNPshotrs111033821
SNPdbers111033821
MSV3drs111033821
GWAS Ctlgrs111033821
Max Magnitude0
ClinVar
Risk rs111033821(T;T)
Alt rs111033821(T;T)
Reference rs111033821(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.34649617C>T
CLNSRC ARUP GALT
CLNACC RCV000022274.1,