Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 33
rs2890565 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 15
rs228648 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 13
rs6128 0.851 0.360 1 169593666 synonymous variant C/A;T snv 2.8E-05; 0.24 5
rs2808629 0.925 0.160 1 159707006 upstream gene variant G/A snv 0.31 3
rs184340784 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 2
rs3818569 0.925 0.160 1 165419892 synonymous variant G/A snv 2
rs6427247 0.925 0.160 1 170411339 regulatory region variant A/G snv 0.26 2
rs6704078 0.925 0.200 1 216437370 intergenic variant C/T snv 0.94 2
rs142293996
NVL
1.000 0.120 1 224260357 intron variant C/A snv 1.1E-02 1
rs1711347 1.000 0.120 1 243998680 intron variant G/A snv 0.53 1
rs2811893 1.000 0.120 1 58696476 intron variant T/C snv 0.39 1
rs3007729 1.000 0.120 1 18468761 regulatory region variant T/C;G snv 1
rs476141 1.000 0.120 1 244013122 intron variant G/A;T snv 1
rs512825 1.000 0.120 1 244006892 intron variant A/G snv 0.39 1
rs74152685 1.000 0.120 1 247647989 intron variant G/T snv 4.4E-02 1
rs2230774 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 12
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48