Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs606231451
TMEM240
0.925 0.120 1 1535372 missense variant G/A snv 2
rs876188 1.000 0.040 14 98012267 intergenic variant G/A snv 0.66 1
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv 6
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs755221106
CACNA1G
0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 7
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv 6
rs1805323
PMS2
0.925 0.160 7 5987311 missense variant G/A;T snv 4.0E-06; 8.0E-02 2
rs3512
FAN1 ; MTMR10
0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 4
rs3730070
ADCY6
0.925 0.120 12 48775065 intron variant G/C snv 0.13 0.23 2
rs149767043
C20orf194
1.000 0.040 20 3343726 missense variant G/C snv 4.0E-06 7.0E-06 1
rs386418 1.000 0.040 Y 3213255 intergenic variant G/C snv 1
rs1458500258
RYR2
0.925 0.080 1 237388098 missense variant G/T snv 7.0E-06 3
rs17779747 1.000 0.040 17 70498851 regulatory region variant G/T snv 0.24 2
rs398124647
CALM2
0.807 0.120 2 47161851 missense variant T/A;C snv 6
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18
rs1805015
IL4R
0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 22
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs16847548 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 8
rs11567847
TEAD1
0.925 0.120 11 12937202 missense variant T/C snv 3
rs3734960
DPP6
0.925 0.240 7 154892443 missense variant T/C snv 0.33 0.36 2
rs138694505
SEMA3A
1.000 0.040 7 84007493 missense variant T/C snv 3.4E-03 6.6E-03 1
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv 6
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 9
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