Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs974120 | 0.851 | 0.200 | 8 | 2789080 | intron variant | T/C;G | snv | 4 | |||
rs7939734 | 1.000 | 0.040 | 11 | 70208839 | upstream gene variant | T/A | snv | 0.57 | 1 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs121913461 | 0.851 | 0.120 | 9 | 130862970 | missense variant | T/C | snv | 5 | |||
rs121913452 | 0.851 | 0.080 | 9 | 130873027 | missense variant | T/A;C;G | snv | 4 | |||
rs10508293 | 1.000 | 0.040 | 10 | 5098945 | intron variant | A/G | snv | 0.19 | 1 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs387906659 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 14 | |||
rs10931910 | 0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv | 2 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1188975135 | 0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs10821936 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 11 | ||
rs10740055 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 7 | ||
rs227092 | 1.000 | 0.040 | 11 | 108366056 | 3 prime UTR variant | G/A;C;T | snv | 1 | |||
rs780634396 | 0.882 | 0.120 | 18 | 63318618 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
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 | |||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs227060 | 0.882 | 0.160 | 11 | 108334154 | intron variant | C/T | snv | 0.27 | 3 | ||
rs17433222 | 1.000 | 0.040 | 1 | 22652153 | upstream gene variant | G/A | snv | 0.23 | 1 | ||
rs765669662 | 0.925 | 0.040 | 8 | 85465317 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 | 2 | ||
rs2308950 | 0.882 | 0.040 | 1 | 15507011 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-02 | 3 |