Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs750371239 | 1.000 | 0.080 | 11 | 108252912 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs11214077 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 12 | |
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs769177037 | 1.000 | 0.080 | 1 | 161328467 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs867966048 | 1.000 | 0.080 | 1 | 161340637 | missense variant | G/A;C | snv | 2 | |||
rs770599902 | 1.000 | 0.080 | 1 | 161362382 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs33927012 | 1.000 | 0.080 | 1 | 17027802 | missense variant | A/G | snv | 1.2E-02 | 9.3E-03 | 1 | |
rs104886028 | 1.000 | 0.080 | 12 | 25227308 | missense variant | C/T | snv | 1 | |||
rs121913240 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 24 | |||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs145633958 | 1.000 | 0.080 | 10 | 43100551 | missense variant | C/A;T | snv | 2.7E-03; 4.0E-06 | 1 | ||
rs34682185 | 0.851 | 0.120 | 10 | 43106382 | missense variant | G/A | snv | 6.3E-04 | 2.2E-04 | 4 | |
rs773631693 | 1.000 | 0.080 | 10 | 43106436 | missense variant | C/A | snv | 4.0E-06 | 1 | ||
rs75873440 | 0.763 | 0.200 | 10 | 43112173 | missense variant | G/A;T | snv | 4.4E-05 | 10 | ||
rs747844360 | 1.000 | 0.080 | 10 | 43112853 | missense variant | G/A | snv | 1.2E-05 | 1 | ||
rs377767394 | 0.925 | 0.080 | 10 | 43113603 | missense variant | A/C | snv | 2 | |||
rs377767395 | 0.882 | 0.120 | 10 | 43113613 | missense variant | A/G | snv | 4 | |||
rs77558292 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 8 | |||
rs77939446 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 15 | ||
rs121913313 | 1.000 | 0.080 | 10 | 43113626 | inframe deletion | TTCCCTGAGGAGGAGAAGTGCTTCTGC/- | delins | 1 | |||
rs377767391 | 0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv | 5 | |||
rs377767397 | 0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv | 10 | |||
rs377767398 | 0.807 | 0.280 | 10 | 43113628 | missense variant | GC/AT;CT;TT | mnv | 8 |