Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912475
rs121912475
KRT5
0.800 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745

2011
dbSNP: rs57599352
rs57599352
KRT5
0.800 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745

2011
dbSNP: rs121912475
rs121912475
KRT5
0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs57599352
rs57599352
KRT5
0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs121912475
rs121912475
KRT5
0.800 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: rs57599352
rs57599352
KRT5
0.800 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: rs121912475
rs121912475
KRT5
0.800 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: rs57599352
rs57599352
KRT5
0.800 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: rs121912475
rs121912475
KRT5
0.800 GeneticVariation UNIPROT A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. 9740251

1998
dbSNP: rs57599352
rs57599352
KRT5
0.800 GeneticVariation UNIPROT A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. 9740251

1998
dbSNP: rs121912475
rs121912475
KRT5
0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 7534039

1995
dbSNP: rs57599352
rs57599352
KRT5
0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 7534039

1995
dbSNP: rs121912475
rs121912475
KRT5
0.800 GeneticVariation UNIPROT Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 7686424

1993
dbSNP: rs57599352
rs57599352
KRT5
0.800 GeneticVariation UNIPROT Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 7686424

1993
dbSNP: rs121912475
rs121912475
KRT5
A 0.800 CausalMutation CLINVAR

dbSNP: rs57599352
rs57599352
KRT5
G 0.800 CausalMutation CLINVAR

dbSNP: rs58163069
rs58163069
KRT5
G 0.800 CausalMutation CLINVAR

dbSNP: rs58163069
rs58163069
KRT5
0.800 GeneticVariation UNIPROT

dbSNP: rs59629244
rs59629244
KRT14
G 0.800 CausalMutation CLINVAR

dbSNP: rs59629244
rs59629244
KRT14
0.800 GeneticVariation UNIPROT

dbSNP: rs61371557
rs61371557
KRT14
C 0.800 CausalMutation CLINVAR

dbSNP: rs61371557
rs61371557
KRT14
0.800 GeneticVariation UNIPROT

dbSNP: rs1057515580
rs1057515580
KLHL24
C 0.700 CausalMutation CLINVAR Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062

2016
dbSNP: rs886037956
rs886037956
KLHL24
G 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs886037957
rs886037957
KLHL24
T 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016