Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397516464
rs397516464
TNNT2
1 1 201364365 missense variant C/G;T snv 0.700 1.000 4 2004 2014