Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1092913 0.925 0.080 5 10467590 intron variant G/A snv 0.19 1
rs10623258 1.000 0.080 14 104745924 non coding transcript exon variant -/TT ins 0.56 1
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2
rs10864459 1.000 0.080 1 10503552 intron variant A/G;T snv 1
rs616488 0.925 0.080 1 10506158 intron variant A/G snv 0.27 2
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 25
rs62331150 1.000 0.080 4 105147856 intron variant G/T snv 0.42 1
rs9790517 0.925 0.080 4 105163621 intron variant C/T snv 0.20 2
rs2726492 1.000 0.080 4 105274384 intron variant T/C snv 0.82 1
rs12546444 1.000 0.080 8 105346392 intron variant A/T snv 8.0E-02 1
rs2506889 1.000 0.080 1 10535965 non coding transcript exon variant C/G;T snv 1
rs77928427 1.000 0.080 4 105435604 intron variant C/A snv 0.21 1
rs12918713 1.000 0.080 16 10609831 regulatory region variant A/C snv 5.8E-02 1
rs199867187 1.000 0.080 1 10637822 3 prime UTR variant AA/-;A;AAA;AAAA delins 0.29 1
rs60037937 1.000 0.080 9 107541528 downstream gene variant AA/- delins 0.22 1
rs10759243 0.925 0.080 9 107543834 upstream gene variant C/A;T snv 2
rs10816625 0.925 0.080 9 108074792 regulatory region variant A/G snv 6.5E-02 1
rs13294895 0.925 0.080 9 108074895 regulatory region variant C/T snv 0.12 1
rs630965 1.000 0.080 9 108123199 intergenic variant C/T snv 0.60 1
rs865686 0.851 0.080 9 108126198 regulatory region variant G/A;T snv 2
rs676256 1.000 0.080 9 108133073 intergenic variant C/T snv 0.68 1
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs7847854 1.000 0.080 9 108239892 intergenic variant C/T snv 0.57 1
rs730881333
ATM
0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 1
rs772821016
ATM
0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 4