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rs111033730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033730(A;A)
Make rs111033730(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648364
GeneGALT
is asnp
is mentioned by
dbSNPrs111033730
ebirs111033730
HLIrs111033730
Exacrs111033730
Varsomers111033730
Maprs111033730
PheGenIrs111033730
hapmaprs111033730
1000 genomesrs111033730
hgdprs111033730
ensemblrs111033730
gopubmedrs111033730
geneviewrs111033730
scholarrs111033730
googlers111033730
pharmgkbrs111033730
gwascentralrs111033730
openSNPrs111033730
23andMers111033730
23andMe allrs111033730
SNP Nexus

SNPshotrs111033730
SNPdbers111033730
MSV3drs111033730
GWAS Ctlgrs111033730
Max Magnitude0
ClinVar
Risk rs111033730(A;A)
Alt rs111033730(A;A)
Reference rs111033730(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.34648361G>A
CLNSRC ARUP GALT
CLNACC RCV000022160.1,