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rs111033736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033736(A;A)
Make rs111033736(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648376
GeneGALT
is asnp
is mentioned by
dbSNPrs111033736
ebirs111033736
HLIrs111033736
Exacrs111033736
Varsomers111033736
Maprs111033736
PheGenIrs111033736
hapmaprs111033736
1000 genomesrs111033736
hgdprs111033736
ensemblrs111033736
gopubmedrs111033736
geneviewrs111033736
scholarrs111033736
googlers111033736
pharmgkbrs111033736
gwascentralrs111033736
openSNPrs111033736
23andMers111033736
23andMe allrs111033736
SNP Nexus

SNPshotrs111033736
SNPdbers111033736
MSV3drs111033736
GWAS Ctlgrs111033736
Max Magnitude0
OMIM606999
Desc
Variant0014
Relatedalso
ClinVar
Risk rs111033736(A;A)
Alt rs111033736(A;A)
Reference rs111033736(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.34648373G>A
CLNSRC ARUP GALT OMIM Allelic Variant
CLNACC RCV000003806.3,