Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 34 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2195239 | 0.851 | 0.240 | 12 | 102462924 | non coding transcript exon variant | C/G | snv | 0.28 | 7 | ||
rs2237895 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 10 | |||
rs3217992 | 0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 | 22 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs786203926 | 0.882 | 0.120 | 11 | 108227678 | synonymous variant | T/C | snv | 4 | |||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs17107315 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 40 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1799895 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 26 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs2229629 | 0.882 | 0.120 | 2 | 74889400 | missense variant | G/A | snv | 6.0E-02 | 0.18 | 4 | |
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 |