Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs222020
GC
0.851 0.320 4 71770555 intron variant C/T snv 0.72 5
rs483352809
TUBB4A
0.882 0.120 19 6495754 missense variant C/T snv 5
rs527236031
PIGT ; MIR6812
0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 5
rs368311455
CPT2
0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 4
rs1562902
CYP2R1
0.925 0.120 11 14896670 upstream gene variant C/T snv 0.55 3
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs74315403
PRNP
0.790 0.200 20 4699752 missense variant G/A snv 10
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs1799821
CPT2
0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 8
rs3829251
NADSYN1
0.851 0.120 11 71483513 intron variant G/A snv 0.21 8
rs745386663
GLB1
0.807 0.160 3 33051956 missense variant G/A snv 8.0E-06 2.1E-05 7
rs587777606
HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL
0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 6
rs121918807
LOC102724058 ; SCN1A ; SCN1A-AS1
0.851 0.080 2 165994275 missense variant G/A snv 7.2E-05 2.8E-05 5
rs121918046
POLG
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 4
rs1057518694
YARS2 ; DNM1L
1.000 12 32731069 missense variant G/A snv 2
rs118192205
KCNQ2
1.000 20 63442495 missense variant G/A snv 2
rs1554616628
YWHAG
1.000 7 76329927 missense variant G/A snv 2
rs879255689
DNM1L
12 32722602 missense variant G/A snv 1
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs796052650
LOC105372724 ; KCNQ2
0.925 0.040 20 63413574 missense variant G/A;C snv 4
rs755090271
PDHA1
X 19359501 missense variant G/A;C snv 5.4E-06; 5.4E-06 1
rs587776983
TUBB4A
0.807 0.240 19 6502209 missense variant G/A;C;T snv 9
rs886041715
GNAO1 ; DKFZP434H168 ; LOC283856
0.827 0.040 16 56192353 missense variant G/A;C;T snv 7