Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
rs147247472 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 5 | ||
rs2234918 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 5 | |
rs2236861 | 0.882 | 0.080 | 1 | 28813244 | intron variant | G/A | snv | 0.19 | 3 | ||
rs10494334 | 1.000 | 0.080 | 1 | 163535374 | intergenic variant | G/A | snv | 0.10 | 1 | ||
rs2236857 | 1.000 | 0.080 | 1 | 28835097 | intron variant | T/C | snv | 0.28 | 1 | ||
rs581111 | 1.000 | 0.080 | 1 | 28848861 | intron variant | A/G | snv | 0.63 | 1 | ||
rs950302 | 1.000 | 0.080 | 1 | 167114567 | intron variant | A/G | snv | 0.47 | 1 | ||
rs965972 | 1.000 | 0.080 | 1 | 193494720 | intron variant | G/A | snv | 0.86 | 1 | ||
rs1344706 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 21 | |||
rs7597593 | 0.827 | 0.160 | 2 | 184668853 | intron variant | T/C | snv | 0.53 | 6 | ||
rs10196867 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 5 | |||
rs1867898 | 1.000 | 0.080 | 2 | 133762000 | intergenic variant | G/A | snv | 0.22 | 1 | ||
rs1978340 | 1.000 | 0.080 | 2 | 170813611 | non coding transcript exon variant | G/A | snv | 0.25 | 1 | ||
rs769395 | 1.000 | 0.080 | 2 | 170860293 | 3 prime UTR variant | G/A | snv | 0.76 | 1 | ||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs9825563 | 1.000 | 0.080 | 3 | 114181373 | intron variant | A/G | snv | 0.36 | 2 | ||
rs279858 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 8 | |
rs11503014 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 2 | ||
rs1986513 | 1.000 | 0.080 | 4 | 125146073 | intergenic variant | A/T | snv | 8.9E-02 | 1 | ||
rs686 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs187269 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 6 | ||
rs5326 | 0.851 | 0.160 | 5 | 175443193 | 5 prime UTR variant | C/T | snv | 0.15 | 6 | ||
rs884344 | 0.882 | 0.120 | 5 | 37824138 | intron variant | A/C | snv | 0.33 | 5 |