Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs367947846
MYBPC3
1.000 0.040 11 47346298 stop gained G/A;C snv 7.7E-05 2
rs368200299
TTN-AS1 ; TTN
2 178620285 stop gained G/A;T snv 4.9E-06 2
rs755747010
AGL
1.000 0.080 1 99870764 stop gained C/T snv 8.0E-06 7.0E-06 2
rs774316050
MYBPC3
1.000 0.040 11 47348485 stop gained G/A;C;T snv 8.1E-06 2
rs876657670
TTN ; TTN-AS1
2 178560622 stop gained C/A;T snv 2
rs1024095026
ABCC9
12 21887879 stop gained G/A snv 1.2E-05 1
rs141735183
MYH7
14 23420222 stop gained C/A snv 8.2E-06 7.0E-06 1
rs1559051231
TTN ; TTN-AS1
2 178535728 stop gained C/T snv 1
rs1559746821
TTN-AS1 ; TTN
2 178608282 stop gained A/T snv 1
rs1561323791
LOC101927055 ; TTN-AS1 ; TTN
2 178779110 stop gained C/T snv 1
rs1561686893
DSP
6 7567372 stop gained C/T snv 1
rs1561690319
DSP
6 7571506 stop gained C/T snv 1
rs1565590309
PKP2
12 32850910 stop gained G/A snv 1
rs1565628520
MYBPC3
11 47343585 stop gained -/GCTCACCTGGTAGGCCGGCTCCAGCTTCT delins 1
rs193922683
ABCC9
12 21852457 stop gained G/A snv 1.6E-05 1
rs730880689
MYBPC3
11 47343543 stop gained -/TGGTCAGCCAGTTCCA delins 1
rs769665204
TTN-AS1 ; TTN
2 178562076 stop gained G/A;T snv 4.1E-06 1
rs778127887
TMEM43
3 14141613 stop gained C/T snv 1.6E-05 3.5E-05 1
rs782222974
EMD
X 154379710 stop gained G/A;T snv 2.3E-05; 1.1E-05 1
rs902082118
CSRP3
11 19186266 stop gained G/A snv 1.2E-05 1
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131