Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879253979
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.700 0