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: rs397517481
rs397517481
TTN ; TTN-AS1
1.000 0.040 2 178734327 splice donor variant C/A;T snv 4.3E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 1 2013 2013