Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13107325 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 34 | ||
rs143384 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 17 | ||
rs6567160 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 12 | ||
rs2277339 | 12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 | 10 | |||
rs459193 | 0.925 | 0.120 | 5 | 56510924 | downstream gene variant | A/G | snv | 0.69 | 9 | ||
rs2145272 | 20 | 6645571 | intergenic variant | G/A;T | snv | 8 | |||||
rs1142 | 0.851 | 0.040 | 7 | 105115879 | intron variant | C/T | snv | 0.31 | 6 | ||
rs7801581 | 7 | 27184152 | intron variant | C/T | snv | 0.24 | 5 | ||||
rs62621197 | 1.000 | 0.080 | 19 | 8605262 | missense variant | C/A;T | snv | 4.1E-06; 3.1E-02 | 2.9E-02 | 4 | |
rs757608 | 17 | 61419916 | regulatory region variant | A/G;T | snv | 4 | |||||
rs12449442 | 17 | 67951524 | non coding transcript exon variant | G/A | snv | 0.22 | 3 | ||||
rs145878042 | 12 | 47749532 | missense variant | A/G | snv | 7.3E-03 | 7.6E-03 | 3 | |||
rs2287922 | 19 | 48728969 | missense variant | G/A | snv | 0.37 | 0.37 | 3 | |||
rs4580892 | 6 | 127088737 | intron variant | C/T | snv | 0.32 | 3 | ||||
rs4640244 | 17 | 21380911 | intron variant | A/G | snv | 0.33 | 3 | ||||
rs1044299 | 1 | 176842737 | 3 prime UTR variant | C/G;T | snv | 2 | |||||
rs1053593 | 22 | 35264882 | missense variant | G/C;T | snv | 8.0E-06; 0.58 | 2 | ||||
rs12214804 | 6 | 34221089 | downstream gene variant | C/A;G;T | snv | 2 | |||||
rs17738166 | 5 | 173570975 | intron variant | G/A;C | snv | 2 | |||||
rs2061708 | 1 | 102951647 | intron variant | G/A;C;T | snv | 2 | |||||
rs2532111 | 17 | 63940061 | 3 prime UTR variant | A/G | snv | 0.67 | 2 | ||||
rs4240326 | 4 | 144918112 | intron variant | A/G;T | snv | 2 | |||||
rs668871 | 6 | 160348779 | synonymous variant | C/G;T | snv | 0.45 | 0.50 | 2 | |||
rs7213608 | 17 | 21375977 | upstream gene variant | C/T | snv | 0.71 | 2 | ||||
rs7621604 | 3 | 61572044 | intron variant | A/G;T | snv | 2 |