Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2073932
ADAMTS13
9 133440318 intron variant A/G snv 0.57 1
rs652600
ADAMTS13
9 133445896 intron variant G/A snv 0.66 1
rs536297956
ATP8A2
13 25530064 missense variant C/T snv 1
rs35810727
AVPR1B
1 206112629 intron variant G/A;T snv 1
rs33929415
HBB
11 5225612 missense variant G/A;C;T snv 4.0E-06 1
rs587783675
KCNJ11
11 17387104 missense variant A/G snv 1
rs750521766
LAD1
1 201389275 missense variant C/T snv 1.1E-04 3.5E-05 1
rs138850469
NEUROD1 ; CERKL
2 181678775 missense variant G/C snv 5.2E-05 4.2E-05 1
rs7375036
SCN10A
3 38727881 intron variant T/C snv 6.4E-03 1
rs7712562
TERT
5 1295957 upstream gene variant A/G snv 0.88 1
rs10818684 1.000 0.040 9 122407651 intron variant C/T snv 0.62 2
rs1206634 1.000 0.040 X 96302380 intron variant T/A;G snv 2
rs1260236 1.000 0.040 9 6023030 intergenic variant A/G snv 2
rs12910524 1.000 0.040 15 101262360 intergenic variant T/A;C snv 2
rs1543654 1.000 0.040 21 34426752 upstream gene variant T/C snv 2
rs181914932 1.000 0.040 20 45932640 non coding transcript exon variant T/C snv 1.6E-02 2
rs2863389 1.000 0.040 3 166431104 intergenic variant C/T snv 0.17 2
rs4258701 1.000 0.040 18 27895834 intergenic variant C/T snv 0.28 2
rs57922 1.000 0.040 5 74282114 intron variant C/T snv 0.40 2
rs649529 1.000 0.040 11 88275083 intergenic variant G/A;T snv 2
rs6688849 1.000 0.040 1 47530532 intergenic variant A/C;G snv 2
rs6706313 1.000 0.040 2 60311754 regulatory region variant A/G snv 0.18 2
rs9846911 3 187500548 intergenic variant A/G snv 0.47 2
rs148529020
ABCC8
1.000 0.040 11 17460613 missense variant C/T snv 1.2E-05 1.4E-05 2
rs756823374
ABCC8
1.000 0.040 11 17463515 missense variant G/A snv 1.4E-05 2