Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs118203933
CA2
0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 6
rs1162306056
KCNQ3
0.882 0.080 8 132174294 missense variant C/T snv 5
rs3829251
NADSYN1
0.851 0.120 11 71483513 intron variant G/A snv 0.21 8
rs587777606
HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL
0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06 6
rs12800438
NADSYN1
1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 5
rs1562902
CYP2R1
0.925 0.120 11 14896670 upstream gene variant C/T snv 0.55 3
rs4945008
NADSYN1
1.000 0.080 11 71510202 intron variant A/G;T snv 2
rs7116978
PDE3B
1.000 0.080 11 14860225 intron variant T/C snv 0.65 2
rs886037942
SLC1A2
1.000 11 35315089 missense variant C/G;T snv 2
rs4516035
VDR
0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 10
rs2239186
VDR
0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 5
rs1057518694
YARS2 ; DNM1L
1.000 12 32731069 missense variant G/A snv 2
rs879255689
DNM1L
12 32722602 missense variant G/A snv 1
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
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
rs760292725
SCO1
17 10681145 missense variant T/C snv 1
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