Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7539517
rs7539517
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs7539517
rs7539517
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs769114543
rs769114543
Entrez Id: 199857;101928098
Gene Symbol: ALG14;ALG14-AS1
ALG14;ALG14-AS1
CUI: C4015596
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 15 		T 0.700 GeneticVariation CLINVAR Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 28733338 2017
dbSNP: rs2391388
rs2391388
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C0202177
Disease:
Phospholipid measurement 		C 0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs2391388
rs2391388
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C1281901
Disease:
Fatty acid measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs6675668
rs6675668
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C1281901
Disease:
Fatty acid measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs6675668
rs6675668
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
CUI: C0202177
Disease:
Phospholipid measurement 		T 0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs367570129
rs367570129
Entrez Id: 199857;105378863
Gene Symbol: ALG14;LOC105378863
ALG14;LOC105378863
CUI: C4015596
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 15 		A 0.700 CausalMutation CLINVAR
dbSNP: rs730882050
rs730882050
Entrez Id: 199857;101928098
Gene Symbol: ALG14;ALG14-AS1
ALG14;ALG14-AS1
CUI: C4015596
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 15 		A 0.700 CausalMutation CLINVAR