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: rs797046047
rs797046047
TPM3
1.000 0.080 1 154170441 missense variant C/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0