Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs117865811
SPON1
11 14180763 intron variant A/G snv 6.3E-03 2
rs182244780
RRAS2
11 14363985 intron variant G/A snv 6.0E-03 2
rs12287212 11 14428315 intergenic variant C/A snv 0.31 2
rs55665837
COPB1
11 14473503 intron variant C/G;T snv 2
rs1007392
PDE3B
11 14753045 intron variant A/G snv 0.35 2
rs11023332
PDE3B
11 14762564 intron variant G/C snv 0.35 2
rs116970203
PDE3B
11 14855172 intron variant G/A snv 2.2E-02 2
rs117913124
CYP2R1
11 14879385 synonymous variant G/A snv 1.7E-02 1.6E-02 2
rs1993116
CYP2R1
0.827 0.200 11 14888688 intron variant A/G snv 0.65 8
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs2060793
CYP2R1
0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 11
rs117300835 11 15097429 intergenic variant G/A snv 7.6E-03 2
rs11586313 1 152917994 TF binding site variant G/A;C snv 0.51 2
rs79666294 5 155047146 regulatory region variant C/T snv 2.2E-02 2
rs6730714 2 222184302 intergenic variant G/A;T snv 2
rs2207173
LOC105372568
20 22824423 intergenic variant G/A snv 0.72 2
rs156299
LOC107986777
7 24185113 intergenic variant T/G snv 0.53 2
rs12868495 13 34067425 intergenic variant G/A snv 2.3E-02 2
rs8018720
SEC23A
14 39086981 missense variant G/C;T snv 0.80; 1.1E-04 2
rs2277458
GEMIN2 ; LOC105370459
14 39114277 5 prime UTR variant A/G snv 0.80 0.83 2
rs719700 12 45635426 intergenic variant T/C snv 1.8E-02 2
rs1410656 13 46968386 intergenic variant T/C snv 0.97 2
rs6127099 20 54114863 intergenic variant A/T snv 0.28 5
rs17216707 20 54115823 intergenic variant T/C snv 0.17 6
rs2302190
MTMR4
17 58507147 missense variant T/A;C snv 0.24 3