KRT14, keratin 14, 3861

N. diseases: 173; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
G 0.810 CausalMutation CLINVAR
dbSNP: rs57121345
rs57121345
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C3715082
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
T 0.800 CausalMutation CLINVAR
dbSNP: rs59629244
rs59629244
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner
G 0.800 CausalMutation CLINVAR
dbSNP: rs59629244
rs59629244
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner
0.800 GeneticVariation UNIPROT
dbSNP: rs61371557
rs61371557
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner
C 0.800 CausalMutation CLINVAR
dbSNP: rs61371557
rs61371557
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner
0.800 GeneticVariation UNIPROT
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079298
Disease:
Epidermolysis Bullosa Simplex
G 0.710 CausalMutation CLINVAR
dbSNP: rs3826549
rs3826549
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
0.710 GeneticVariation UNIPROT
dbSNP: rs58330629
rs58330629
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079298
Disease:
Epidermolysis Bullosa Simplex
T 0.710 CausalMutation CLINVAR
dbSNP: rs60399023
rs60399023
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
A 0.710 CausalMutation CLINVAR
dbSNP: rs147611635
rs147611635
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner
0.700 GeneticVariation UNIPROT
dbSNP: rs200779504
rs200779504
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C3715082
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs267607390
rs267607390
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0343111
Disease:
Naegeli syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs267607391
rs267607391
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0343111
Disease:
Naegeli syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs56974573
rs56974573
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0080333
Disease:
Weber-Cockayne Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs57278315
rs57278315
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C3715082
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs57358989
rs57358989
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C3715082
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs57358989
rs57358989
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0080333
Disease:
Weber-Cockayne Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs58330629
rs58330629
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
T 0.700 CausalMutation CLINVAR
dbSNP: rs58380626
rs58380626
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
G 0.700 CausalMutation CLINVAR
dbSNP: rs58380626
rs58380626
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner
0.700 GeneticVariation UNIPROT
dbSNP: rs58645163
rs58645163
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0080333
Disease:
Weber-Cockayne Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs58762773
rs58762773
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara
T 0.700 CausalMutation CLINVAR
dbSNP: rs59375065
rs59375065
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0080333
Disease:
Weber-Cockayne Syndrome
0.700 GeneticVariation UNIPROT