Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037957
rs886037957
KLHL24
A 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745

2011
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745

2011
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515

2006
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515

2006
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 11407988

2001
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 11407988

2001
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794

1999
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794

1999
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794

1999
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794

1999
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. 9740251

1998
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. 9740251

1998
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 7534039

1995
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 7534039

1995
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. 7526926

1994
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. 7526926

1994