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 Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. 1720261

1991
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. 1720261

1991
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
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