Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs3135506 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 26
rs662799 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs8259
BSG
0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 9
rs11014166 0.882 0.040 10 18419869 intron variant A/T snv 0.27 10
rs1761667 0.752 0.320 7 80615623 intron variant G/A snv 0.49 12
rs771676129 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 7
rs999947969 0.827 0.080 7 80671145 synonymous variant C/T snv 7
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs10757274 0.701 0.320 9 22096056 intron variant A/G snv 0.41 22
rs10757278 0.620 0.520 9 22124478 intron variant A/G snv 0.40 44
rs1333049 0.614 0.520 9 22125504 intron variant G/C snv 0.41 60
rs2383207 0.695 0.280 9 22115960 intron variant A/G snv 0.64 22
rs4977574 0.695 0.520 9 22098575 intron variant A/G;T snv 26
rs1800775 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 18
rs5882 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs708272 0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38 24
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs5063 0.763 0.280 1 11847591 missense variant C/T snv 5.6E-02 5.3E-02 12
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs3732378 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 48
rs3732379 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 38
rs4673 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 32
rs7195830 0.851 0.080 16 88643304 3 prime UTR variant A/G snv 0.62 0.69 6
rs1799998 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 14