Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11015260
rs11015260
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
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: rs11015260
rs11015260
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
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: rs12256438
rs12256438
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
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: rs12256438
rs12256438
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
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: rs1057519353
rs1057519353
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
CUI: C3553354
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		CT 0.700 CausalMutation CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012
dbSNP: rs1057519354
rs1057519354
Entrez Id: 10006;23590
Gene Symbol: ABI1;PDSS1
ABI1;PDSS1
CUI: C3553354
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		C 0.700 CausalMutation CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012
dbSNP: rs119463988
rs119463988
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
CUI: C3553354
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 2 		G 0.700 CausalMutation CLINVAR Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 2007