Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516085
KCNQ2
0.827 0.080 20 63444747 missense variant C/T snv 8
rs1057518443
CUL4B
1.000 0.040 X 120557964 missense variant T/C snv 3
rs1057518694
YARS2 ; DNM1L
1.000 12 32731069 missense variant G/A snv 2
rs1057524792
LIAS
1.000 0.040 4 39467617 missense variant T/G snv 3
rs1060499537
KCNT2
1.000 1 196429676 missense variant A/T snv 2
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 31
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs118192205
KCNQ2
1.000 20 63442495 missense variant G/A snv 2
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv 9
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121918046
POLG
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 4
rs121918807
LOC102724058 ; SCN1A ; SCN1A-AS1
0.851 0.080 2 165994275 missense variant G/A snv 7.2E-05 2.8E-05 5
rs12800438
NADSYN1
1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 5
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs1554616628
YWHAG
1.000 7 76329927 missense variant G/A snv 2
rs1562902
CYP2R1
0.925 0.120 11 14896670 upstream gene variant C/T snv 0.55 3
rs1799821
CPT2
0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 8
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2118610
SMAD3
1.000 0.080 15 67135996 intron variant T/C snv 0.59 2
rs222020
GC
0.851 0.320 4 71770555 intron variant C/T snv 0.72 5
rs2229291
CPT2
0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 8
rs2239186
VDR
0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 5