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: rs797046060
rs797046060
TTN ; TTN-AS1
2 178719588 frameshift variant GC/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0