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rs111033799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033799(-;-)
Make rs111033799(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649481
GeneGALT
is asnp
is mentioned by
dbSNPrs111033799
ebirs111033799
HLIrs111033799
Exacrs111033799
Varsomers111033799
Maprs111033799
PheGenIrs111033799
hapmaprs111033799
1000 genomesrs111033799
hgdprs111033799
ensemblrs111033799
gopubmedrs111033799
geneviewrs111033799
scholarrs111033799
googlers111033799
pharmgkbrs111033799
gwascentralrs111033799
openSNPrs111033799
23andMers111033799
23andMe allrs111033799
SNP Nexus

SNPshotrs111033799
SNPdbers111033799
MSV3drs111033799
GWAS Ctlgrs111033799
Max Magnitude0
ClinVar
Risk rs111033799(;)
Alt rs111033799(;)
Reference rs111033799(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.34649478delC
CLNSRC ClinVar
CLNACC RCV000022251.1,