Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 2
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs3888565
ABCC1
1.000 0.080 16 16089188 intron variant G/A snv 0.25 1
rs4148353
ABCC1
1.000 0.080 16 16077291 intron variant G/A;T snv 1
rs875989854
ACADM
0.925 0.160 1 75734798 missense variant C/G;T snv 8.0E-06 1
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 1
rs203462
AKAP10
0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43 1
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 1
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 1
rs137852573
AR
0.807 0.280 X 67686064 missense variant G/A snv 3
rs137852576
AR
0.827 0.240 X 67686067 missense variant G/A snv 1
rs1131691164
ATM
0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05 3
rs1137887
ATM
0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05 3
rs1555069815
ATM
0.925 0.280 11 108249082 frameshift variant T/- del 3
rs1555070980
ATM
0.925 0.280 11 108250907 stop gained T/G snv 3
rs55861249
ATM
0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 3
rs587779817
ATM
0.925 0.280 11 108251026 frameshift variant GA/- delins 3
rs587779833
ATM
0.925 0.280 11 108279578 stop gained C/G snv 4.0E-06 7.0E-06 3
rs587781558
ATM
0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06 3
rs587781653
ATM
0.925 0.280 11 108289737 frameshift variant G/- delins 3
rs730881336
ATM
0.925 0.280 11 108244867 stop gained C/T snv 8.0E-06 3
rs730881346
ATM
0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 3