KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.810 GeneticVariation UNIPROT
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		C 0.810 CausalMutation CLINVAR
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		T 0.800 CausalMutation CLINVAR
dbSNP: rs57424749
rs57424749
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		G 0.800 CausalMutation CLINVAR
dbSNP: rs58608173
rs58608173
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777717
rs587777717
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		CC 0.800 CausalMutation CLINVAR
dbSNP: rs59856285
rs59856285
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs59856285
rs59856285
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs60723330
rs60723330
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs60723330
rs60723330
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1555573633
rs1555573633
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C4552049
Disease:
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		GCC 0.700 CausalMutation CLINVAR
dbSNP: rs58181827
rs58181827
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs59328451
rs59328451
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs59349773
rs59349773
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		G 0.700 CausalMutation CLINVAR
dbSNP: rs59349773
rs59349773
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs59856285
rs59856285
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs60944949
rs60944949
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		G 0.700 CausalMutation CLINVAR
dbSNP: rs58293603
rs58293603
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.810 GeneticVariation BEFREE A heterozygous missense mutation (L124R) was detected in a kindred with PC-1. 10839714 2000
dbSNP: rs28928894
rs28928894
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs57424749
rs57424749
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs58608173
rs58608173
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs587777717
rs587777717
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011
dbSNP: rs60723330
rs60723330
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease:
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.800 GeneticVariation UNIPROT A large mutational study in pachyonychia congenita. 21326300 2011