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 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs947211 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 3 | ||
rs10788972 | 0.925 | 0.040 | 1 | 54106570 | intron variant | C/A | snv | 0.57 | 2 | ||
rs823144 | 0.925 | 0.040 | 1 | 205775418 | 5 prime UTR variant | C/A;G | snv | 2 | |||
rs849898 | 0.925 | 0.040 | 1 | 227966216 | intergenic variant | A/C;G | snv | 2 | |||
rs12046178 | 1.000 | 0.040 | 1 | 54106502 | intron variant | T/C | snv | 0.30 | 1 | ||
rs6692804 | 1.000 | 0.040 | 1 | 109566120 | intron variant | G/A | snv | 0.29 | 1 | ||
rs11186 | 0.925 | 0.040 | 2 | 189032668 | 3 prime UTR variant | A/C | snv | 9.4E-02 | 2 | ||
rs775129424 | 1.000 | 0.040 | 2 | 134898383 | missense variant | G/A | snv | 8.2E-06 | 1 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs112176450 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 7 | |
rs763222239 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs1879553 | 0.925 | 0.040 | 3 | 118896616 | downstream gene variant | A/G | snv | 7.3E-02 | 2 | ||
rs6783485 | 0.925 | 0.040 | 3 | 59442071 | intron variant | G/A | snv | 5.1E-02 | 2 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs5030732 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 10 | |
rs356219 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 9 | ||
rs11931074 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 7 | |||
rs121917767 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 6 | ||
rs2736990 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 4 | |||
rs356182 | 0.882 | 0.080 | 4 | 89704960 | intron variant | G/A | snv | 0.65 | 3 | ||
rs6812193 | 0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 | 3 | ||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 |