Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72549407
rs72549407
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		0.800 GeneticVariation UNIPROT The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. 26571211 2016
dbSNP: rs72549407
rs72549407
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		0.800 GeneticVariation UNIPROT Novel FAM126A mutations in hypomyelination and congenital cataract disease. 23998934 2013
dbSNP: rs72549407
rs72549407
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		0.800 GeneticVariation UNIPROT Hypomyelination and congenital cataract: broadening the clinical phenotype. 21911699 2011
dbSNP: rs72549407
rs72549407
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		0.800 GeneticVariation UNIPROT Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 16951682 2006
dbSNP: rs72549407
rs72549407
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		G 0.800 CausalMutation CLINVAR
dbSNP: rs2286490
rs2286490
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
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: rs2286490
rs2286490
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
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: rs1562502139
rs1562502139
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1562502139
rs1562502139
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs72549405
rs72549405
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs72549406
rs72549406
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
CUI: C1864663
Disease:
HYPOMYELINATION AND CONGENITAL CATARACT 		A 0.700 CausalMutation CLINVAR