Source: ALL
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: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017