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: 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