Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906657
MYBPC1
0.925 0.080 12 101642459 missense variant T/C snv 7.0E-06 1
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05 3
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv 4
rs545623839
MYH2 ; MYHAS
1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05 2
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 1
rs756953958
MYH2 ; MYHAS
1.000 0.160 17 10544100 missense variant G/A snv 8.0E-06 7.0E-06 1
rs121913619
MYH3
0.882 0.080 17 10650374 missense variant G/A;T snv 4.0E-06 1
rs121909092
DNM2
0.882 0.120 19 10793829 missense variant G/A snv 4
rs267607190
ISCU
1.000 0.120 12 108564313 missense variant G/A;C snv 1.2E-05; 4.0E-06 1
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 3
rs150516929
CRYAB
0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 1
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 2
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 3
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 4
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs387906587
FLNC
1.000 7 128835550 missense variant G/A snv 1
rs122458140
FHL1
0.925 0.120 X 136207825 missense variant G/C snv 1
rs122458142
FHL1
1.000 X 136207827 missense variant C/T snv 1
rs122458143
FHL1
1.000 X 136207855 missense variant G/T snv 1
rs122458141
FHL1
1.000 0.120 X 136208625 missense variant C/G snv 1
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 5
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs797046047
TPM3
1.000 0.080 1 154170441 missense variant C/A snv 1
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins 3