Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs367543048
ACTA1
0.925 0.080 1 229433100 stop gained C/A;T snv 4.0E-06 2
rs367543049
ACTA1
0.925 0.080 1 229432867 missense variant C/T snv 2
rs121909529
ACTA1
1.000 0.080 1 229431830 missense variant T/A snv 1
rs121909530
ACTA1
1.000 0.080 1 229432134 missense variant A/G snv 1
rs121909531
ACTA1
1.000 0.080 1 229431633 missense variant G/A snv 1
rs367543050
ACTA1
1.000 0.080 1 229432181 missense variant C/G snv 1
rs367543051
ACTA1
0.925 0.080 1 229432075 missense variant C/T snv 1
rs367543052
MHRT ; MYH7
0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 4
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
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
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 9
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv 9
rs371898076
MYH7
0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 9
rs397516127
MYH7
0.763 0.160 14 23426834 missense variant G/A;C snv 9
rs397516171
MYH7
0.763 0.160 14 23424041 missense variant C/G;T snv 9
rs397516264
MYH7
0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06 9
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 5
rs111436401
RYR1
0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06 4
rs118192140
RYR1
0.851 0.160 19 38573304 missense variant C/T snv 4.4E-05 4.2E-05 4
rs193922837
RYR1
0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05 4
rs377178986
RYR1
0.851 0.160 19 38543420 stop gained C/A snv 2.4E-05 3.5E-05 4
rs118192117
RYR1
0.882 0.160 19 38451846 missense variant T/C snv 4.0E-06 2
rs367543058
RYR1
0.882 0.160 19 38519399 missense variant T/G snv 2.2E-05 4.9E-05 2
rs111364670
RYR1
1.000 0.080 19 38510566 splice donor variant G/A;T snv 1