Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 6
rs121918598
RYR2
0.851 0.080 1 237648523 missense variant G/A;C snv 1
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 3
rs1799895
SOD3
0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 1
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs121918080
TTR
0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 1
rs121918090
TTR
0.790 0.240 18 31593026 missense variant G/C snv 1