Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2820443 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 8
rs13241427 1.000 7 1249003 regulatory region variant G/T snv 0.72 6
rs2145270 20 6641038 regulatory region variant C/T snv 0.61 4
rs41310284 10 100687890 intergenic variant C/A;T snv 3
rs994014 4 81244636 intergenic variant T/C snv 0.43 3
rs2635727 1.000 0.080 6 50853227 downstream gene variant T/C;G snv 2
rs4694504 4 72630974 intergenic variant A/G;T snv 2
rs6492538 13 91341492 intergenic variant A/C snv 0.83 2
rs7306275 12 49856328 upstream gene variant G/A snv 0.29 2
rs112416074 7 148950668 intergenic variant -/G delins 0.14 1
rs11614785 12 50486639 intergenic variant C/G snv 0.24 1
rs12971970 19 47056015 intergenic variant T/A;C snv 1
rs13011472 2 57734467 intergenic variant C/G snv 0.40 1
rs1317415 5 158525396 intron variant T/A;C snv 1
rs17781552 1 203550520 intergenic variant G/A snv 0.58 1
rs2607733 3 14103134 intergenic variant T/A;C snv 1
rs356429 5 139693558 intron variant C/T snv 0.30 1
rs56372408 2 171560293 downstream gene variant A/G snv 0.17 1
rs5779197 1 184040693 upstream gene variant A/-;AA;AAA;AAAA;AAAAA delins 1
rs62107261 2 422144 non coding transcript exon variant T/C snv 2.9E-02 1
rs6731872 2 624205 intergenic variant T/G snv 0.85 1
rs7039458 9 84025084 intergenic variant G/A snv 0.70 1
rs71336392 18 60183695 intergenic variant TCT/- delins 0.24 1
rs9469762 6 34268653 intron variant G/A;T snv 1
rs3817428
ACAN
15 88872016 missense variant C/G snv 0.20 0.20 3