Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
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
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05 5
rs148808089
MYH7
0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05 4
rs397515905
MYBPC3
0.851 0.080 11 47342719 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 4
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 4
rs727503246
MIR208B ; MYH7
0.882 0.080 14 23418313 missense variant C/T snv 7.0E-06 4