Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs74315296
CPT2
0.827 0.240 1 53211181 missense variant C/T snv 4.0E-06 1.4E-05 4
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 4
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv 4
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 3
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 3
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 3
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv 3
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs28930069
CACNA1S
0.882 0.200 1 201053539 missense variant G/A;C snv 3
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv 3
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs483352867
STIM1
0.827 0.400 11 4074620 missense variant C/T snv 3
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 3
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05 3
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 3
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 3
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 3
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 2
rs104894294
RAPSN
1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05 2
rs121909330
VCP
0.752 0.200 9 35065364 missense variant G/A;C;T snv 2
rs121909335
VCP
0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 2
rs138058572
MIR324 ; ACADVL
1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05 2