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rs111033814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033814(A;A)
Make rs111033814(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position34649535
GeneGALT
is asnp
is mentioned by
dbSNPrs111033814
ebirs111033814
HLIrs111033814
Exacrs111033814
Varsomers111033814
Maprs111033814
PheGenIrs111033814
hapmaprs111033814
1000 genomesrs111033814
hgdprs111033814
ensemblrs111033814
gopubmedrs111033814
geneviewrs111033814
scholarrs111033814
googlers111033814
pharmgkbrs111033814
gwascentralrs111033814
openSNPrs111033814
23andMers111033814
23andMe allrs111033814
SNP Nexus

SNPshotrs111033814
SNPdbers111033814
MSV3drs111033814
GWAS Ctlgrs111033814
Max Magnitude0
ClinVar
Risk rs111033814(A;A)
Alt rs111033814(A;A)
Reference rs111033814(C;C)
Significance Pathogenic
Disease Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Variation info
Gene GALT
CLNDBN Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase not provided
Reversed 0
HGVS NC_000009.11:g.34649532C>A
CLNSRC ARUP GALT HGMD
CLNACC RCV000022266.6, RCV000224058.1,


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

[PMID 10535394] Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.

[PMID 10960497] Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.

[PMID 11261429] The molecular biology of galactosemia.

[PMID 11754113] Molecular analysis in newborns from Texas affected with galactosemia.

[PMID 15172000] Extended [13C]galactose oxidation studies in patients with galactosemia.