Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 16 | |
rs3219476 | 0.882 | 0.200 | 1 | 45336998 | intron variant | A/C | snv | 0.58 | 3 | ||
rs761937143 | 1.000 | 0.040 | 18 | 51047229 | synonymous variant | A/C | snv | 8.0E-06 | 1 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1194919682 | 0.925 | 0.040 | 2 | 136115158 | missense variant | A/G | snv | 2 | |||
rs2076310 | 0.925 | 0.080 | 6 | 33198257 | intron variant | A/G | snv | 0.27 | 0.28 | 2 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 | ||
rs1003723 | 0.925 | 0.080 | 19 | 11113505 | non coding transcript exon variant | C/A;T | snv | 4.0E-06; 0.40 | 2 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs2289278 | 0.827 | 0.200 | 5 | 111073450 | 5 prime UTR variant | C/G | snv | 8.7E-02 | 5 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs28929474 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 37 | ||
rs3740066 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 20 | ||
rs2106261 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 11 | |||
rs3024270 | 0.776 | 0.200 | 11 | 1996209 | non coding transcript exon variant | C/G;T | snv | 0.46; 5.2E-06 | 8 | ||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs4986938 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 35 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs3219472 | 0.882 | 0.160 | 1 | 45338378 | 5 prime UTR variant | C/T | snv | 0.26 | 3 | ||
rs2230054 | 0.925 | 0.080 | 2 | 218135587 | synonymous variant | C/T | snv | 0.48 | 0.54 | 2 |