Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs1805015
IL4R
0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 22
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65 12
rs120074192
KCNQ1
0.763 0.120 11 2527959 missense variant A/G snv 10
rs116928232
LIPA
0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 9
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 9
rs16847548 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 8
rs73598374
ADA
0.790 0.280 20 44651586 missense variant C/A;G;T snv 7.1E-06; 6.2E-02 8
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv 7
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv 6
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv 6
rs267607277
CALM1
0.807 0.120 14 90404386 missense variant A/G snv 6