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rs111033788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033788(-;-)
Make rs111033788(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649457
GeneGALT
is asnp
is mentioned by
dbSNPrs111033788
ebirs111033788
HLIrs111033788
Exacrs111033788
Varsomers111033788
Maprs111033788
PheGenIrs111033788
hapmaprs111033788
1000 genomesrs111033788
hgdprs111033788
ensemblrs111033788
gopubmedrs111033788
geneviewrs111033788
scholarrs111033788
googlers111033788
pharmgkbrs111033788
gwascentralrs111033788
openSNPrs111033788
23andMers111033788
23andMe allrs111033788
SNP Nexus

SNPshotrs111033788
SNPdbers111033788
MSV3drs111033788
GWAS Ctlgrs111033788
Max Magnitude0
ClinVar
Risk rs111033788(;)
Alt rs111033788(;)
Reference rs111033788(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.34649454delC
CLNSRC ClinVar
CLNACC RCV000022240.1,