Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 | |||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs11842874 | 1.000 | 0.040 | 13 | 113040195 | intron variant | A/G | snv | 0.12 | 1 | ||
rs419598 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 13 | |
rs919642 | 1.000 | 0.040 | 9 | 114148867 | intergenic variant | A/T | snv | 0.22 | 2 | ||
rs11965969 | 1.000 | 0.040 | 6 | 116131040 | intron variant | T/G | snv | 0.50 | 1 | ||
rs763810877 | 1.000 | 0.040 | 6 | 116806885 | missense variant | T/C | snv | 1.2E-04 | 3.5E-05 | 1 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4144782 | 0.925 | 0.040 | 2 | 118844296 | non coding transcript exon variant | A/C;G | snv | 2 | |||
rs1905786 | 1.000 | 0.040 | 8 | 118939453 | intron variant | T/A;C | snv | 2 | |||
rs1032128 | 1.000 | 0.040 | 8 | 118939534 | intron variant | G/A | snv | 0.30 | 1 | ||
rs1564861 | 1.000 | 0.040 | 8 | 118953670 | upstream gene variant | A/C | snv | 0.43 | 1 | ||
rs7958311 | 0.851 | 0.160 | 12 | 121167552 | missense variant | G/A;C | snv | 0.25; 4.0E-06 | 5 | ||
rs2908004 | 1.000 | 0.040 | 7 | 121329715 | missense variant | G/A;T | snv | 0.44; 4.0E-06 | 4 | ||
rs121913474 | 0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv | 9 | |||
rs121918505 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 5 | |||
rs7135617 | 0.827 | 0.240 | 12 | 121631099 | intron variant | T/C;G | snv | 5 | |||
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs10654220 | 1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins | 2 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 |