Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6508 | 0.882 | 0.160 | 11 | 32438918 | non coding transcript exon variant | G/A | snv | 8.3E-02 | 0.16 | 3 | |
rs2301254 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 3 | ||
rs761613959 | 0.851 | 0.080 | 1 | 155187356 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 4 | |
rs74315344 | 0.851 | 0.080 | 1 | 179575806 | missense variant | G/A | snv | 2.8E-03 | 4.2E-03 | 4 | |
rs75462234 | 0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins | 4 | |||
rs2239785 | 0.827 | 0.240 | 22 | 36265284 | missense variant | G/A | snv | 0.79 | 0.68 | 5 | |
rs71785313 | 0.882 | 0.120 | 22 | 36265996 | inframe deletion | TTATAA/- | delins | 5 | |||
rs530391015 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs753350907 | 0.827 | 0.080 | 10 | 100806499 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs267607555 | 0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 | 6 | ||
rs530318579 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 6 | ||
rs267602852 | 0.827 | 0.160 | 11 | 32417631 | missense variant | G/A | snv | 7 | |||
rs188942711 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs748106387 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 9 | ||
rs74315342 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 10 | |
rs119473033 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 11 | |
rs140511594 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 13 | |
rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 20 | |
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 |