Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 17
rs11075884 1.000 0.080 16 71321332 intergenic variant A/C;G snv 1
rs203462
AKAP10
0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43 6
rs796096871
AKAP10
0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs34434221
AKAP13
0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02 3
rs2241268
AKAP13
1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19 1
rs4843075
AKAP13
1.000 0.080 15 85581324 missense variant G/A;C snv 0.61; 4.0E-06 1
rs6964587
AKAP9
0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 4
rs6960867
AKAP9
0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34 3
rs758898660
ARHGEF28
1.000 0.080 5 73892052 missense variant G/A snv 4.4E-06 1
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs147120792
ARL11
0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 6
rs756522395
ATM
1.000 0.080 11 108257484 missense variant C/G;T snv 1
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs113211432
BARD1
0.882 0.080 2 214767532 frameshift variant -/TG delins 3
rs2070094
BARD1
0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37 3
rs386654966
BARD1
0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 3
rs799917
BRCA1
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs16940
BRCA1
0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 5
rs12516
BRCA1
0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31 4
rs876660702
BRCA1
0.851 0.160 17 43063333 splice region variant C/T snv 4
rs747364414
BRCA1
0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06 3
rs80357125
BRCA1
0.882 0.080 17 43063940 missense variant C/A;G;T snv 3