Disease: Cardiomyopathy, Hypertrophic, Familial
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 5
rs727503204
MYBPC3
0.882 0.080 11 47343020 splice donor variant C/G;T snv 5
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 4
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv 4
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs397516089
MYH7
0.827 0.080 14 23429807 missense variant C/G;T snv 4
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv 4
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv 4
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv 3
rs121913647
MHRT ; MYH7
0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 3
rs397516142
MYH7
1.000 0.080 14 23425357 missense variant C/A;G;T snv 8.0E-06; 1.6E-05 3
rs45544633
MHRT ; MYH7
1.000 0.080 14 23417174 missense variant G/A snv 3
rs730880140
MYBPC3
1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06 2