Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1568523935
SLC25A42
0.776 0.240 19 19105656 stop gained C/G snv 20
rs766265889
TTN-AS1 ; TTN
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 11
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv 10
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv 10
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 10
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 9
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs121912683
SLC25A4
0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 8
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 7
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 7
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs397516915
DSP
0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 6
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 6
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 5
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 5
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del 5
rs727503204
MYBPC3
0.882 0.080 11 47343020 splice donor variant C/G;T snv 5
rs1057518422
TAB2
0.851 0.240 6 149378954 stop gained C/T snv 5
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05 5