Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs730880604
MYBPC3
1.000 0.080 11 47332113 stop gained A/C;G snv 1
rs397516157
MYH7
0.882 0.080 14 23424893 missense variant A/C;G;T snv 4.0E-06 3
rs113358486
MYBPC3
0.925 0.080 11 47333555 splice donor variant A/C;G;T snv 8.4E-06 2
rs121964858
TNNT2
0.807 0.120 1 201365244 missense variant A/C;G;T snv 2
rs187830361
MYBPC3
0.882 0.080 11 47337729 missense variant A/C;G;T snv 1.7E-05 2
rs397515910
MYBPC3
0.925 0.080 11 47342627 stop gained A/C;T snv 2
rs397516269
MYH7
0.882 0.080 14 23431426 missense variant A/G snv 4.0E-06 4
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv 3
rs397515897
MYBPC3
0.882 0.080 11 47343019 splice donor variant A/G snv 3
rs121434467
ND1 ; ND2 ; COX1 ; TRNI
0.925 0.200 MT 4295 non coding transcript exon variant A/G snv 2
rs397516166
MYH7
0.925 0.080 14 23424085 missense variant A/G snv 2
rs1060501443
MYH7
1.000 0.080 14 23427855 missense variant A/G snv 1
rs1060501448
MYH7
1.000 0.080 14 23425792 missense variant A/G snv 1
rs121434470
COX1 ; ND1 ; TRNI ; ND2
1.000 0.080 MT 4300 non coding transcript exon variant A/G snv 1
rs1555337794
MYH7
1.000 0.080 14 23425294 missense variant A/G snv 1
rs1555408679
TPM1
1.000 0.080 15 63059648 missense variant A/G snv 1
rs1567864804
TCAP
1.000 0.080 17 39665360 start lost A/G snv 1
rs1568858210
TNNI3
1.000 0.080 19 55154175 missense variant A/G snv 1
rs193922681
LOC101928174 ; ACTC1
1.000 0.080 15 34794742 missense variant A/G snv 1
rs730880702
MYBPC3
1.000 0.080 11 47332173 missense variant A/G snv 1
rs730880944
MYL2
1.000 0.080 12 110919144 missense variant A/G snv 1
rs869025467
MYBPC3
1.000 0.080 11 47341001 splice donor variant A/G snv 1
rs869025470
MYBPC3
1.000 0.080 11 47332070 splice donor variant A/G snv 1
rs727503261
MYH7
0.882 0.080 14 23425774 missense variant A/G;T snv 3
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv 3