Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 10
rs869178171
TTN-AS1 ; TTN
0.790 0.200 2 178563475 stop gained C/A snv 7
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 6
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 5
rs397517689
TTN-AS1 ; TTN
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 5
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 4
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 4
rs397516165
MYH7
0.925 0.080 14 23424118 missense variant C/G;T snv 4
rs267607004
RBM20
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 4
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv 4
rs72648250
TTN-AS1 ; TTN
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 4
rs727503607
TTN-AS1 ; TTN
0.882 0.160 2 178605642 stop gained C/A snv 4
rs397517906
LMNA
0.925 0.080 1 156134890 missense variant C/T snv 8.0E-06 3
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins 3
rs371678190
TTN-AS1 ; TTN
1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 3
rs730880365
TTN-AS1 ; TTN
1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 3
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 2
rs59270054
LMNA
0.925 0.120 1 156115162 missense variant G/A;C snv 2
rs794728588
LMNA
1.000 0.040 1 156115262 missense variant A/T snv 2
rs730880603
MYBPC3
0.925 0.080 11 47332115 missense variant G/T snv 2
rs727504237
MYH7
0.882 0.080 14 23428529 missense variant G/T snv 2
rs1417036453
SCN5A
0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06 2
rs727504856
TTN-AS1 ; TTN
1.000 0.040 2 178559330 frameshift variant CTTT/- del 2