Disease: Cardiomyopathy, Hypertrophic, Familial
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 9
rs104894724
TNNI3
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 8
rs121913627
MYH7
0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 8
rs121913630
MYH7
0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 7
rs104894502
TPM1
0.807 0.120 15 63060915 missense variant A/G;T snv 6
rs121964858
TNNT2
0.807 0.120 1 201365244 missense variant A/C;G;T snv 6
rs104894729
TNNI3
0.827 0.080 19 55151892 missense variant C/A;G;T snv 5
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06 5
rs375882485
MYBPC3
0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 5
rs397516005
MYBPC3
0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 5
rs573916965
MYBPC3
0.827 0.080 11 47346297 stop gained C/A;T snv 2.5E-04 5
rs121913624
MYH7
0.851 0.080 14 23429278 missense variant C/A;G;T snv 4
rs121913625
MYH7
0.851 0.080 14 23429005 missense variant G/A;C;T snv 4
rs121964857
TNNT2
0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04 4
rs775404728
MYBPC3
0.851 0.080 11 47337535 missense variant G/A snv 4.0E-06 4
rs199476321
TPM1
0.882 0.080 15 63064133 missense variant T/C snv 4.0E-06 1.4E-05 3