Source: ALL

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: rs137853306
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 1.000 1 2018 2018
dbSNP: rs1468885028
rs1468885028
TPM3
1.000 0.080 1 154172960 missense variant T/G snv 4.0E-06
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 1.000 1 2014 2014
dbSNP: rs199474714
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 1.000 1 2018 2018
dbSNP: rs750174047
rs750174047
DNAH8
1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 1.000 1 2018 2018