rs879253979, DYNC1H1

N. diseases: 4
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.
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
8 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0