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: rs1337503417
rs1337503417
0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1337503417
rs1337503417
0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2001 2001
dbSNP: rs28928895
rs28928895
0.882 0.120 17 41612306 missense variant A/G;T snv
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28928895
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