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rs111033738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033738(-;-)
Make rs111033738(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648367
GeneGALT
is asnp
is mentioned by
dbSNPrs111033738
ebirs111033738
HLIrs111033738
Exacrs111033738
Varsomers111033738
Maprs111033738
PheGenIrs111033738
hapmaprs111033738
1000 genomesrs111033738
hgdprs111033738
ensemblrs111033738
gopubmedrs111033738
geneviewrs111033738
scholarrs111033738
googlers111033738
pharmgkbrs111033738
gwascentralrs111033738
openSNPrs111033738
23andMers111033738
23andMe allrs111033738
SNP Nexus

SNPshotrs111033738
SNPdbers111033738
MSV3drs111033738
GWAS Ctlgrs111033738
Max Magnitude0
ClinVar
Risk rs111033738(;)
Alt rs111033738(;)
Reference rs111033738(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.34648364delC
CLNSRC ClinVar
CLNACC RCV000022161.2,