Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1057518443
CUL4B
1.000 0.040 X 120557964 missense variant T/C snv 3
rs755090271
PDHA1
X 19359501 missense variant G/A;C snv 5.4E-06; 5.4E-06 1
rs74315403
PRNP
0.790 0.200 20 4699752 missense variant G/A snv 10
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs74315413
PRNP
0.807 0.160 20 4699780 missense variant A/G snv 8
rs796052621
KCNQ2
0.827 0.080 20 63444756 missense variant C/T snv 6
rs527236031
PIGT ; MIR6812
0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 5
rs756632799
LOC107985405 ; PIGT
0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 5
rs796052650
LOC105372724 ; KCNQ2
0.925 0.040 20 63413574 missense variant G/A;C snv 4
rs118192205
KCNQ2
1.000 20 63442495 missense variant G/A snv 2
rs752874517
MIR6812 ; LOC105372631 ; PIGT
1.000 0.080 20 45425779 missense variant C/A;T snv 8.0E-06 7.0E-06 2
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs587776983
TUBB4A
0.807 0.240 19 6502209 missense variant G/A;C;T snv 9
rs483352809
TUBB4A
0.882 0.120 19 6495754 missense variant C/T snv 5
rs767399782
TUBB4A
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06 3
rs756762431
TUBB4A
1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06 2
rs760292725
SCO1
17 10681145 missense variant T/C snv 1
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 7
rs786203999
GPT2
1.000 16 46906858 missense variant C/G snv 2
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs121918046
POLG
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 4
rs2118610
SMAD3
1.000 0.080 15 67135996 intron variant T/C snv 0.59 2
rs756712426
IDH3A
15 78166196 missense variant C/A snv 2.0E-05 1