Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121912474
rs121912474
KRT5
G 0.700 CausalMutation CLINVAR

dbSNP: rs147611635
rs147611635
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs1555156076
rs1555156076
KRT5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs58072617
rs58072617
KRT5
G 0.700 CausalMutation CLINVAR

dbSNP: rs58107458
rs58107458
KRT5
0.700 GeneticVariation UNIPROT

dbSNP: rs58380626
rs58380626
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs58608695
rs58608695
KRT5
0.700 GeneticVariation UNIPROT

dbSNP: rs59780231
rs59780231
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs59851104
rs59851104
KRT5
0.700 GeneticVariation UNIPROT

dbSNP: rs61027685
rs61027685
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs61263401
rs61263401
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs61540016
rs61540016
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. 7682883

1993
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. 7682883

1993
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: 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