rs59328451
|
1.000 |
0.080 |
17 |
41610549 |
missense variant |
T/A
|
snv
|
2.5E-04
|
1.1E-03
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs59349773
|
1.000 |
0.080 |
17 |
41612324 |
missense variant |
T/C;G
|
snv
|
1.2E-05
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs57424749
|
1.000 |
0.080 |
17 |
41612309 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.050 |
0.600 |
5 |
2000 |
2019 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.040 |
1.000 |
4 |
2000 |
2011 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.030 |
1.000 |
3 |
2006 |
2011 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Insulin resistance syndrome
|
Nutritional and Metabolic Diseases
|
0.020 |
1.000 |
2 |
2003 |
2008 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Diabetes
|
Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Dyslipidemias
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Hypertriglyceridemia
|
Nutritional and Metabolic Diseases
|
0.010 |
< 0.001 |
1 |
2009 |
2009 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Diabetes Mellitus
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Impaired insulin secretion
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Myocardial Infarction
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1337503417
|
0.790 |
0.160 |
17 |
41612325 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Kidney Diseases
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs28928894
|
1.000 |
0.080 |
17 |
41612327 |
missense variant |
A/C;G;T
|
snv
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs28928895
|
0.882 |
0.120 |
17 |
41612306 |
missense variant |
A/G;T
|
snv
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs58608173
|
1.000 |
0.080 |
17 |
41612316 |
missense variant |
T/C
|
snv
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs587777717
|
1.000 |
0.080 |
17 |
41612315 |
missense variant |
TT/CC
|
mnv
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs60723330
|
0.925 |
0.120 |
17 |
41612315 |
missense variant |
T/C
|
snv
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs28928895
|
0.882 |
0.120 |
17 |
41612306 |
missense variant |
A/G;T
|
snv
|
|
|
Pachyonychia Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs28928895
|
0.882 |
0.120 |
17 |
41612306 |
missense variant |
A/G;T
|
snv
|
|
|
Hyperkeratosis of the palms and soles and esophageal papillomas
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs58293603
|
1.000 |
0.080 |
17 |
41612318 |
missense variant |
A/C;G;T
|
snv
|
|
|
Pachyonychia Congenita, Jadassohn Lewandowsky Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
1 |
2000 |
2000 |
rs60723330
|
0.925 |
0.120 |
17 |
41612315 |
missense variant |
T/C
|
snv
|
|
|
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 |
rs1555573633
|
1.000 |
0.120 |
17 |
41610341 |
protein altering variant |
CGCCCTCCAGCAGGCGGCGGTAGGTGG/GCC
|
delins
|
|
|
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|