Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs545854 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 4 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs6903956 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 10 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs1653624 | 0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 | 2 | ||
rs4684846 | 0.882 | 0.080 | 3 | 12297350 | intron variant | A/G | snv | 0.28 | 3 | ||
rs1822825 | 0.925 | 0.080 | 3 | 12408464 | intron variant | G/A | snv | 0.61 | 2 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs33972313 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 8 | ||
rs200469773 | 0.925 | 0.120 | 2 | 169237232 | missense variant | C/T | snv | 4.0E-05 | 4.2E-05 | 2 | |
rs2544390 | 0.925 | 0.080 | 2 | 169348336 | intron variant | C/T | snv | 0.45 | 4 | ||
rs12218 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 11 | |
rs201874364 | 1.000 | 0.040 | 3 | 186065822 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 4 | ||
rs1025993235 | 1.000 | 0.040 | 17 | 18865880 | missense variant | C/T | snv | 1 | |||
rs143583842 | 1.000 | 0.040 | 16 | 20341262 | missense variant | G/A;T | snv | 7.4E-04; 1.2E-05 | 2 | ||
rs28934583 | 0.925 | 0.240 | 16 | 20348652 | missense variant | A/C;G | snv | 2 | |||
rs143709408 | 0.882 | 0.200 | 11 | 2527999 | missense variant | C/T | snv | 1.6E-04 | 3.6E-04 | 5 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs147445322 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 4 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs201178535 | 1.000 | 0.040 | 19 | 38101163 | missense variant | C/T | snv | 4.5E-05 | 5.6E-05 | 2 | |
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs189660050 | 1.000 | 0.040 | 17 | 39870781 | missense variant | C/T | snv | 2.8E-05 | 1.9E-04 | 1 |