Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553315329 2 32116153 stop gained C/A;T snv 3
rs3766246 1 46399999 intron variant A/C;G snv 2
rs3783642 14 54893485 intron variant T/A;C snv 2
rs9524885 13 95283335 intron variant T/C snv 0.63 2
rs17841327 16 55660341 intron variant A/C snv 0.63 1
rs199682734 6 154118718 synonymous variant C/T snv 8.1E-06 7.0E-06 1
rs2287396 14 77327849 non coding transcript exon variant C/T snv 0.15 1
rs3740071 10 99830363 missense variant G/A;C snv 4.0E-06; 4.0E-06 1
rs570874680 5 40764955 missense variant G/A snv 7.2E-05 7.0E-06 1
rs574584 8 26866167 intron variant C/G;T snv 1
rs949060 18 77246982 upstream gene variant C/A;G snv 1
rs9658498 12 117230720 intron variant A/C;G snv 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1800795 0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs25531 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 72
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52