Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516010
MYBPC3
0.925 0.080 11 47333271 stop gained C/A;G snv 2
rs397516035
MYBPC3
0.925 0.080 11 47332192 stop gained T/A snv 2
rs573821685
MYBPC3
0.925 0.080 11 47333618 stop gained G/A;T snv 4.1E-06 2
rs727503180
MYBPC3
0.925 0.080 11 47333996 stop gained G/A snv 2
rs727503211
MYBPC3
0.925 0.080 11 47346331 stop gained C/T snv 2
rs727504329
MYBPC3
0.925 0.080 11 47343505 stop gained G/A snv 2
rs863224483
MYBPC3
0.925 0.080 11 47339653 stop gained G/A snv 2
rs1565622952
MYBPC3
1.000 0.080 11 47332947 stop gained G/T snv 1
rs1565627566
MYBPC3
1.000 0.080 11 47342083 stop gained ACATTTGAACACCGC/CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG delins 1
rs730880544
MYBPC3
1.000 0.080 11 47342680 stop gained G/A;C snv 4.0E-06 1
rs730880576
MYBPC3
1.000 0.080 11 47335199 stop gained C/T snv 1
rs730880604
MYBPC3
1.000 0.080 11 47332113 stop gained A/C;G snv 1
rs730880629
MYBPC3
1.000 0.080 11 47347430 stop gained T/A;G snv 4.8E-06; 4.8E-06 1
rs730880635
MYBPC3
1.000 0.080 11 47343595 stop gained G/A;T snv 4.1E-06 1
rs730880704
MYBPC3
1.000 0.080 11 47350103 stop gained G/A;C snv 1
rs730880759
MYH7
0.925 0.080 14 23424068 stop gained C/A;T snv 4.0E-06 1
rs771929829
MYBPC3
1.000 0.080 11 47348449 stop gained G/A;T snv 8.1E-06; 4.1E-06 1
rs869025459
MYBPC3
1.000 0.080 11 47351302 stop gained C/A snv 1
rs869025461
MYBPC3
1.000 0.080 11 47333584 stop gained T/A snv 1
rs869025462
MYBPC3
1.000 0.080 11 47351381 stop gained GCTGAT/CTCATCA delins 1
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
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
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 9
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv 9