Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv 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
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 5
rs367543052
MHRT ; MYH7
0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 4
rs104894129
TPM2
0.851 0.120 9 35685672 missense variant C/T snv 3
rs121964852
TPM3
0.851 0.080 1 154172971 missense variant C/T snv 3
rs121964854
TPM3
0.882 0.080 1 154172972 missense variant G/A;C snv 3
rs121964853
TPM3
0.925 0.080 1 154176194 missense variant G/C;T snv 2
rs1553248515
TPM3
0.925 0.080 1 154170417 missense variant G/T snv 2
rs367543049
ACTA1
0.925 0.080 1 229432867 missense variant C/T snv 2
rs111364670
RYR1
1.000 0.080 19 38510566 splice donor variant G/A;T snv 1
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
rs1553198464
SELENON
1.000 0.080 1 25800218 start lost AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/- delins 1
rs1553251644
TPM3
1.000 0.080 1 154191976 missense variant C/G snv 1
rs199474711
TPM3
1.000 0.080 1 154192008 missense variant G/A snv 1
rs199474713
TPM3
1.000 0.080 1 154176220 missense variant C/G snv 1
rs199474715
TPM3
1.000 0.080 1 154172969 missense variant T/C snv 1
rs199474717
TPM3
1.000 0.080 1 154170454 missense variant C/T snv 1
rs199474718
TPM3
1.000 0.080 1 154170442 missense variant T/C snv 1
rs367543050
ACTA1
1.000 0.080 1 229432181 missense variant C/G snv 1