rs28928898, KRT17

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pachyonychia Congenita, Type 2 (disorder)
CUI: C1721007
Disease: Pachyonychia Congenita, Type 2 (disorder)
13 0.882 0.080 17 41624247 missense variant A/G;T snv 0.820 1.000 18 1995 2013
Steatocystoma multiplex
CUI: C0259771
Disease: Steatocystoma multiplex
4 0.882 0.080 17 41624247 missense variant A/G;T snv 0.710 1.000 3 1997 2006
Phrynoderma
CUI: C0334013
Disease: Phrynoderma
3 0.882 0.080 17 41624247 missense variant A/G;T snv 0.010 1.000 1 2006 2006