Gene: ABCA12 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1263698595
rs1263698595
ABCA12
0.700 GeneticVariation UNIPROT

dbSNP: rs181314573
rs181314573
ABCA12
0.700 GeneticVariation UNIPROT

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

2003
dbSNP: rs28940269
rs28940269
ABCA12
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs28940270
rs28940270
ABCA12
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs28940271
rs28940271
ABCA12
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs28940568
rs28940568
ABCA12
0.800 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs1295935868
rs1295935868
ABCA12
0.700 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs1457513156
rs1457513156
ABCA12
0.700 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs763858530
rs763858530
ABCA12 ; SNHG31
0.700 GeneticVariation UNIPROT Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 12915478

2003
dbSNP: rs28940268
rs28940268
ABCA12
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
ABCA12
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: rs28940270
rs28940270
ABCA12
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: rs28940271
rs28940271
ABCA12
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: rs28940568
rs28940568
ABCA12
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: rs1295935868
rs1295935868
ABCA12
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: rs1457513156
rs1457513156
ABCA12
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: rs763858530
rs763858530
ABCA12 ; SNHG31
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: rs28940268
rs28940268
ABCA12
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
dbSNP: rs28940269
rs28940269
ABCA12
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
dbSNP: rs28940270
rs28940270
ABCA12
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
dbSNP: rs28940271
rs28940271
ABCA12
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
dbSNP: rs28940568
rs28940568
ABCA12
0.800 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
dbSNP: rs1295935868
rs1295935868
ABCA12
0.700 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008
dbSNP: rs1457513156
rs1457513156
ABCA12
0.700 GeneticVariation UNIPROT Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. 18284401

2008