Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs3730070
ADCY6
0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23 2
rs3734960
DPP6
0.925 0.240 7 154892443 missense variant T/C snv 0.33 0.36 2
rs386418 1.000 0.040 Y 3213255 intergenic variant G/C snv 1
rs3864180
GPC5
1.000 0.040 13 91784234 intron variant A/G;T snv 1
rs398124647
CALM2
0.807 0.120 2 47161851 missense variant T/A;C snv 6
rs4149000
SLCO1A2
0.882 0.080 12 21295063 non coding transcript exon variant C/T snv 0.11 5
rs587777598
ELOVL4
0.851 0.200 6 79921662 missense variant C/G;T snv 4
rs587782933
CACNA1C
0.827 0.200 12 2504526 missense variant G/A snv 5
rs606231451
TMEM240
0.925 0.120 1 1535372 missense variant G/A snv 2
rs7208480 1.000 0.040 17 15770470 non coding transcript exon variant C/T snv 0.28 1
rs730880082
DSP
0.882 0.120 6 7576986 stop gained C/G;T snv 3
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
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 17
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv 6
rs786205753
CACNA1C
0.925 0.080 12 2593255 missense variant G/A snv 3
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv 6
rs80315385
CACNA1C
0.882 0.200 12 2504932 missense variant G/A snv 3
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
rs876188 1.000 0.040 14 98012267 intergenic variant G/A snv 0.66 1
rs887829
UGT1A8 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A4 ; UGT1A3 ; UGT1A10 ; UGT1A1 ; UGT1A9
0.763 0.280 2 233759924 intron variant C/T snv 0.36 18
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13