Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs869320694 0.742 0.520 8 38414790 missense variant T/C snv 16
rs11568818 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs375874539 0.732 0.320 17 7674237 missense variant G/A;C snv 15
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs1285136498 0.807 0.080 5 143400101 missense variant G/A snv 13
rs104893626 0.827 0.280 2 136114915 stop gained G/C snv 11
rs137852578
AR
0.827 0.080 X 67723710 missense variant A/G snv 10
rs2016347 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs587782529 0.851 0.200 17 7670700 missense variant G/A;C snv 8
rs201216664 0.851 0.080 17 51171503 missense variant A/G snv 5
rs11672691 0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 3
rs557263543 8 38412508 3 prime UTR variant C/T snv 3
rs55958994 0.925 0.080 12 52907235 intron variant C/T snv 0.12 3
rs961150162 7 55198779 missense variant G/A;C snv 3
rs969139366 4 54277974 missense variant T/C snv 3.5E-05 3
rs1057519771 1.000 0.080 9 130872201 missense variant G/C snv 2
rs587782148 17 7676113 missense variant C/T snv 2
rs762807774 1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs2073778 22 20087052 non coding transcript exon variant C/T snv 0.12 1
rs720012 22 20111059 3 prime UTR variant G/A snv 0.12 1