rs59685571, KRT6A

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 3
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
20 0.925 0.080 12 52492676 missense variant G/T snv 0.700 0
Pachyonychia Congenita
CUI: C0265334
Disease: Pachyonychia Congenita
7 0.925 0.080 12 52492676 missense variant G/T snv 0.030 1.000 3 2008 2018
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.925 0.080 12 52492676 missense variant G/T snv 0.010 1.000 1 2008 2008