Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2207173
LOC105372568
20 22824423 intergenic variant G/A snv 0.72 2
rs2277458
GEMIN2 ; LOC105370459
14 39114277 5 prime UTR variant A/G snv 0.80 0.83 2
rs3819817
HAL
12 95984993 intron variant C/T snv 0.50 2
rs4423214
NADSYN1
11 71462208 intron variant C/T snv 0.58 2
rs4944062
NADSYN1
11 71476248 3 prime UTR variant G/A;T snv 2
rs55665837
COPB1
11 14473503 intron variant C/G;T snv 2
rs6730714 2 222184302 intergenic variant G/A;T snv 2
rs719700 12 45635426 intergenic variant T/C snv 1.8E-02 2
rs7938885
NADSYN1
11 71458997 non coding transcript exon variant T/C snv 0.59 2
rs79666294 5 155047146 regulatory region variant C/T snv 2.2E-02 2
rs79761689 4 72005565 intergenic variant T/C snv 3.7E-02 2
rs8018720
SEC23A
14 39086981 missense variant G/C;T snv 0.80; 1.1E-04 2
rs843005
GC
4 71750610 intron variant C/A;T snv 2
rs3755967
GC
0.925 0.080 4 71743681 intron variant C/A;T snv 6
rs11234027
NADSYN1
0.882 0.080 11 71523061 intron variant G/A snv 0.24 5
rs12800438
NADSYN1
1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 5
rs1155563
GC
0.925 0.080 4 71777771 intron variant T/A;C snv 4
rs17467825 0.925 0.080 4 71739800 downstream gene variant A/G snv 0.22 4
rs3829251
NADSYN1
0.851 0.120 11 71483513 intron variant G/A snv 0.21 8
rs1993116
CYP2R1
0.827 0.200 11 14888688 intron variant A/G snv 0.65 8
rs2060793
CYP2R1
0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 11
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs12785878
NADSYN1
0.677 0.520 11 71456403 intron variant G/A;T snv 25
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53