Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2853676 0.667 0.560 5 1288432 intron variant T/A;C snv 7
rs55770810 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 7
rs80357382 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 7
rs80357906 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 7
rs121913121
FH
0.851 0.320 1 241513661 missense variant T/G snv 6
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 6
rs3094054 0.807 0.280 6 30365728 upstream gene variant G/A;T snv 6
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 6
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 6
rs63749795 0.807 0.240 3 37028833 stop gained C/T snv 6
rs80359306 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 6
rs121918279 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 5
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 5
rs28897743 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 5
rs41293459 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 5
rs4810485 0.732 0.480 20 46119308 intron variant T/A;G snv 5
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs80357474 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 5
rs80357678 0.851 0.200 17 43091614 frameshift variant AA/- del 5
rs80359770 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 5
rs864622149 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 5
rs12190287 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 4
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 4
rs180177097 0.882 0.080 16 23635519 stop gained G/A snv 4
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 4