Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 2
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 5
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 1
rs774521989
COL6A2
21 46132125 missense variant C/T snv 1.6E-05 4.9E-05 1
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 1
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 3
rs121908192
NOXO1 ; GFER
0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05 1
rs797045932
RYR1
19 38460515 frameshift variant G/- delins 2.8E-05 1
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 1
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 21
rs104894294
RAPSN
1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05 2
rs138058572
MIR324 ; ACADVL
1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05 2
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 3
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs74315296
CPT2
0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 4
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs886044514
GNE ; CLTA
1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 2
rs756953958
MYH2 ; MYHAS
1.000 0.160 17 10544100 missense variant G/A snv 8.0E-06 7.0E-06 1
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs387906657
MYBPC1
0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06 1
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33