rs267607468, 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.
Leukokeratosis
CUI: C1704317
Disease: Leukokeratosis
2 0.882 0.160 12 52488371 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
Pachyonychia Congenita
CUI: C0265334
Disease: Pachyonychia Congenita
7 0.882 0.160 12 52488371 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
Phrynoderma
CUI: C0334013
Disease: Phrynoderma
3 0.882 0.160 12 52488371 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019