Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1495741 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 6
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs710521 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 3
rs1014971 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 2
rs8102137 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 2
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2
rs1046778 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 1
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 3
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs3740393 0.776 0.280 10 102876898 intron variant G/C;T snv 1
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs9642880 0.776 0.240 8 127705823 intron variant G/A;T snv 3
rs603965 0.732 0.440 11 69648142 splice region variant G/A snv 1
rs2230641 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 1
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 2
rs3731239 0.763 0.240 9 21974219 intron variant A/G snv 0.26 1
rs2157719 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 4
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 6
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 11
rs11543198 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 1
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 17
rs2042329 0.882 0.120 5 64771925 intron variant T/C;G snv 1
rs77543610 0.667 0.560 10 121520160 missense variant G/C snv 12