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rs111033787

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033787(G;T)
Make rs111033787(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649456
GeneGALT
is asnp
is mentioned by
dbSNPrs111033787
ebirs111033787
HLIrs111033787
Exacrs111033787
Varsomers111033787
Maprs111033787
PheGenIrs111033787
hapmaprs111033787
1000 genomesrs111033787
hgdprs111033787
ensemblrs111033787
gopubmedrs111033787
geneviewrs111033787
scholarrs111033787
googlers111033787
pharmgkbrs111033787
gwascentralrs111033787
openSNPrs111033787
23andMers111033787
23andMe allrs111033787
SNP Nexus

SNPshotrs111033787
SNPdbers111033787
MSV3drs111033787
GWAS Ctlgrs111033787
Max Magnitude0
ClinVar
Risk rs111033787(T;T)
Alt rs111033787(T;T)
Reference rs111033787(G;G)
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.34649453G>T
CLNSRC ARUP GALT
CLNACC RCV000022239.1,