Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs686030 | 9 | 15304784 | intron variant | C/A | snv | 0.88 | 3 | ||||
rs708686 | 19 | 5840608 | upstream gene variant | C/T | snv | 0.46 | 3 | ||||
rs12968116 | 18 | 57655270 | missense variant | C/T | snv | 8.2E-02 | 8.0E-02 | 2 | |||
rs2292553 | 2 | 218282080 | missense variant | G/A | snv | 0.55 | 0.43 | 2 | |||
rs2547231 | 19 | 47881800 | intron variant | C/A | snv | 0.86 | 2 | ||||
rs11012737 | 10 | 21560840 | intron variant | G/A | snv | 0.23 | 1 | ||||
rs11641445 | 16 | 11545628 | downstream gene variant | C/T | snv | 0.36 | 1 | ||||
rs12004 | 22 | 38481456 | missense variant | T/G | snv | 0.29 | 0.27 | 1 | |||
rs12633863 | 3 | 149493725 | intron variant | G/A | snv | 0.43 | 1 | ||||
rs13280055 | 8 | 11664844 | intergenic variant | G/A | snv | 8.6E-02 | 1 | ||||
rs17138478 | 17 | 37713312 | intron variant | C/A;T | snv | 0.11 | 1 | ||||
rs17240268 | 15 | 89804583 | missense variant | G/A | snv | 6.9E-02 | 9.2E-02 | 1 | |||
rs1935 | 10 | 63168063 | missense variant | C/A;G;T | snv | 4.0E-06; 0.44 | 1 | ||||
rs212100 | 19 | 47873738 | intron variant | T/C | snv | 0.89 | 1 | ||||
rs2291428 | 10 | 45463408 | missense variant | G/C | snv | 0.24 | 0.23 | 1 | |||
rs2469991 | 8 | 119335236 | intergenic variant | A/T | snv | 0.42 | 1 | ||||
rs34851490 | 19 | 45881296 | downstream gene variant | A/G | snv | 0.11 | 1 | ||||
rs4148808 | 7 | 87476479 | intron variant | T/C | snv | 0.19 | 1 | ||||
rs6471717 | 8 | 58464798 | intergenic variant | G/A | snv | 0.70 | 1 | ||||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs11887534 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 29 | ||
rs28929474 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 37 | ||
rs601338 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 19 | |
rs2070959 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 16 | |
rs1169288 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 21 |