Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs120074192
KCNQ1
0.763 0.120 11 2527959 missense variant A/G snv 10
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv 6
rs1208917022
ATN1
1.000 0.040 12 6936663 missense variant A/G snv 3
rs104894393
FGF14
0.925 0.120 13 101726785 missense variant A/G snv 2
rs3864180
GPC5
1.000 0.040 13 91784234 intron variant A/G;T snv 1
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs73598374
ADA
0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 8
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv 7
rs116928232
LIPA
0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 9
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs11720524
SCN5A
0.882 0.080 3 38633921 intron variant C/G;T snv 0.34 3
rs730880082
DSP
0.882 0.120 6 7576986 stop gained C/G;T snv 3
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs4149000
SLCO1A2
0.882 0.080 12 21295063 non coding transcript exon variant C/T snv 0.11 5
rs192749597
CACNA1C ; CACNA1C-AS1
0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 3
rs7208480 1.000 0.040 17 15770470 non coding transcript exon variant C/T snv 0.28 1
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs587782933
CACNA1C
0.827 0.200 12 2504526 missense variant G/A snv 5
rs786205753
CACNA1C
0.925 0.080 12 2593255 missense variant G/A snv 3
rs80315385
CACNA1C
0.882 0.200 12 2504932 missense variant G/A snv 3