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: rs886041287
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0