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rs111033804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033804(C;T)
Make rs111033804(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649494
GeneGALT
is asnp
is mentioned by
dbSNPrs111033804
ebirs111033804
HLIrs111033804
Exacrs111033804
Varsomers111033804
Maprs111033804
PheGenIrs111033804
hapmaprs111033804
1000 genomesrs111033804
hgdprs111033804
ensemblrs111033804
gopubmedrs111033804
geneviewrs111033804
scholarrs111033804
googlers111033804
pharmgkbrs111033804
gwascentralrs111033804
openSNPrs111033804
23andMers111033804
23andMe allrs111033804
SNP Nexus

SNPshotrs111033804
SNPdbers111033804
MSV3drs111033804
GWAS Ctlgrs111033804
Max Magnitude0
ClinVar
Risk rs111033804(T;T)
Alt rs111033804(T;T)
Reference rs111033804(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.34649491C>T
CLNSRC ARUP GALT
CLNACC RCV000022256.1,