KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs58293603
rs58293603 		1.000 0.080 17 41612318 missense variant A/C;G;T snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 1 2000 2000
dbSNP: rs28928894
rs28928894 		1.000 0.080 17 41612327 missense variant A/C;G;T snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2013
dbSNP: rs28928895
rs28928895 		0.882 0.120 17 41612306 missense variant A/G;T snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2013
dbSNP: rs57424749
rs57424749 		1.000 0.080 17 41612309 missense variant C/G;T snv 8.0E-06
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2013
dbSNP: rs58608173
rs58608173 		1.000 0.080 17 41612316 missense variant T/C snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2013
dbSNP: rs587777717
rs587777717 		1.000 0.080 17 41612315 missense variant TT/CC mnv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2013
dbSNP: rs60723330
rs60723330 		0.925 0.120 17 41612315 missense variant T/C snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 12 1995 2013
dbSNP: rs60723330
rs60723330 		0.925 0.120 17 41612315 missense variant T/C snv
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 1 1995 1995
dbSNP: rs59856285
rs59856285 		0.925 0.120 17 41612310 missense variant G/A;C snv
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs1555573633
rs1555573633 		1.000 0.120 17 41610341 protein altering variant CGCCCTCCAGCAGGCGGCGGTAGGTGG/GCC delins
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58181827
rs58181827 		1.000 0.080 17 41612298 inframe deletion AGG/- delins
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59328451
rs59328451 		1.000 0.080 17 41610549 missense variant T/A snv 2.5E-04 1.1E-03
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59349773
rs59349773 		1.000 0.080 17 41612324 missense variant T/C;G snv 1.2E-05
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59856285
rs59856285 		0.925 0.120 17 41612310 missense variant G/A;C snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60944949
rs60944949 		1.000 0.080 17 41612294 missense variant A/G snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 0.600 5 2000 2019
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.040 1.000 4 2000 2011
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2006 2011
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		Nutritional and Metabolic Diseases 0.020 1.000 2 2003 2008
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1337503417
rs1337503417 		0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		0.010 1.000 1 2003 2003