KRT86, keratin 86, 3892

N. diseases: 23; N. variants: 11
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: rs121909129
rs121909129 		1.000 0.080 12 52306270 missense variant G/A snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1997 2015
dbSNP: rs57419521
rs57419521 		1.000 0.080 12 52287112 missense variant C/T snv 8.0E-06
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 4 1997 2015
dbSNP: rs121909130
rs121909130 		1.000 0.080 12 52306272 missense variant G/T snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 1997 2015
dbSNP: rs60687604
rs60687604 		1.000 0.080 12 52306237 missense variant G/A;C snv 4.0E-06
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 1997 2015
dbSNP: rs56821304
rs56821304 		1.000 0.080 12 52287145 missense variant C/G;T snv 4.9E-04
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs61091894
rs61091894 		1.000 0.080 12 52302256 missense variant A/C;G snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs59448276
rs59448276 		1.000 0.080 12 52286982 intron variant G/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs138597671
rs138597671 		1.000 0.080 12 52288038 stop gained A/G;T snv 8.0E-06; 1.1E-03
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60612575
rs60612575 		1.000 0.080 12 52302269 missense variant C/A;T snv 6.4E-05
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs771393943
rs771393943 		1.000 0.080 12 52287127 missense variant G/A snv 1.2E-04 2.8E-05
CUI: C0546966
Disease: Monilethrix
Monilethrix 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs3660
rs3660 		0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3660
rs3660 		0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3660
rs3660 		0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3660
rs3660 		0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3660
rs3660 		0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3660
rs3660 		0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015