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rs111033737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033737(C;T)
Make rs111033737(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position34648379
GeneGALT
is asnp
is mentioned by
dbSNPrs111033737
ebirs111033737
HLIrs111033737
Exacrs111033737
Varsomers111033737
Maprs111033737
PheGenIrs111033737
hapmaprs111033737
1000 genomesrs111033737
hgdprs111033737
ensemblrs111033737
gopubmedrs111033737
geneviewrs111033737
scholarrs111033737
googlers111033737
pharmgkbrs111033737
gwascentralrs111033737
openSNPrs111033737
23andMers111033737
23andMe allrs111033737
SNP Nexus

SNPshotrs111033737
SNPdbers111033737
MSV3drs111033737
GWAS Ctlgrs111033737
Max Magnitude0
ClinVar
Risk rs111033737(T;T)
Alt rs111033737(T;T)
Reference rs111033737(C;C)
Significance Other
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.34648376C>T
CLNSRC ARUP GALT HGMD
CLNACC RCV000022164.6,


[PMID 10408] Electrochemistry of drug action I: electrooreduction of ferredoxins.


[PMID 11216901] Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.


[PMID 12595586] Verbal dyspraxia and galactosemia.


[PMID 18210213] A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.


[PMID 19224951OA-icon.png] Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.


[PMID 19375122] An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.