Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 10
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs121908596
MAP2K1
0.807 0.240 15 66436837 missense variant G/A;T snv 7
rs397516037
MYBPC3
0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 4
rs1060501439
MYH7
0.925 0.080 14 23424938 missense variant T/A snv 4
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 4
rs387907267
MYBPC3
0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 3
rs397516005
MYBPC3
0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 3
rs104894503
TPM1
0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 3
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 2
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs201278114
MYBPC3
0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 2
rs768079285
NEBL
1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 2
rs1799998
CYP11B2
0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 1
rs11053646
OLR1
0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 1
rs148158093
RPL36A-HNRNPH2 ; GLA
0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 1