Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1263698595
rs1263698595
0.700 GeneticVariation UNIPROT

dbSNP: rs1295935868
rs1295935868
0.700 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003

dbSNP: rs1295935868
rs1295935868
0.700 GeneticVariation UNIPROT Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. 17508018

2007

dbSNP: rs1295935868
rs1295935868
0.700 GeneticVariation UNIPROT Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012

dbSNP: rs1295935868
rs1295935868
0.700 GeneticVariation UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009

dbSNP: rs1295935868
rs1295935868
0.700 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008

dbSNP: rs1457513156
rs1457513156
0.700 GeneticVariation UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009

dbSNP: rs1457513156
rs1457513156
0.700 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008

dbSNP: rs1457513156
rs1457513156
0.700 GeneticVariation UNIPROT Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012

dbSNP: rs1457513156
rs1457513156
0.700 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003

dbSNP: rs1457513156
rs1457513156
0.700 GeneticVariation UNIPROT Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. 17508018

2007

dbSNP: rs181314573
rs181314573
0.700 GeneticVariation UNIPROT

dbSNP: rs28940268
rs28940268
0.800 GeneticVariation UNIPROT Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. 17508018

2007

dbSNP: rs28940268
rs28940268
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003

dbSNP: rs28940268
rs28940268
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008

dbSNP: rs28940268
rs28940268
0.800 GeneticVariation UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009

dbSNP: rs28940268
rs28940268
0.800 GeneticVariation UNIPROT Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012

dbSNP: rs28940269
rs28940269
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003

dbSNP: rs28940269
rs28940269
0.800 GeneticVariation UNIPROT Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. 17508018

2007

dbSNP: rs28940269
rs28940269
0.800 GeneticVariation UNIPROT ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 19262603

2009

dbSNP: rs28940269
rs28940269
0.800 GeneticVariation UNIPROT Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012

dbSNP: rs28940269
rs28940269
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008

dbSNP: rs28940270
rs28940270
0.800 GeneticVariation UNIPROT Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. 22257947

2012

dbSNP: rs28940270
rs28940270
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003

dbSNP: rs28940270
rs28940270
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008