Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
rs7512462 | 0.882 | 0.200 | 1 | 205930467 | intron variant | T/C | snv | 0.38 | 4 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs1130866 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 9 | ||
rs1143639 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
rs772717932 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
rs778055276 | 3 | 122555701 | missense variant | T/C | snv | 4.4E-05 | 3.5E-05 | 1 | |||
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs1799895 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 26 | |
rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
rs1022113606 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 17 | |
rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
rs17563161 | 0.882 | 0.040 | 5 | 497509 | intron variant | G/A | snv | 0.18 | 4 | ||
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs78655421 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 18 | ||
rs213950 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 16 | |
rs75527207 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 15 | |
rs1800076 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 10 | ||
rs397508638 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 9 |