Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs143384 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 17 | ||
rs6570507 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 13 | ||
rs3791679 | 0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 | 11 | ||
rs11205303 | 0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 | 9 | |
rs2820443 | 0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 | 8 | ||
rs35874463 | 0.827 | 0.120 | 15 | 67165360 | missense variant | A/G | snv | 4.0E-02 | 3.4E-02 | 8 | |
rs13241427 | 1.000 | 7 | 1249003 | regulatory region variant | G/T | snv | 0.72 | 6 | |||
rs55872725 | 16 | 53775211 | intron variant | C/T | snv | 0.31 | 6 | ||||
rs72755233 | 1.000 | 0.080 | 15 | 100152748 | missense variant | G/A;T | snv | 7.1E-02; 3.2E-05 | 5 | ||
rs1993976 | 1.000 | 15 | 98063084 | intron variant | G/A | snv | 0.45 | 5 | |||
rs7523050 | 1.000 | 1 | 108875057 | intron variant | C/A | snv | 0.18 | 5 | |||
rs921231 | 1.000 | 8 | 91348168 | intron variant | T/C | snv | 0.21 | 5 | |||
rs2145270 | 20 | 6641038 | regulatory region variant | C/T | snv | 0.61 | 4 | ||||
rs62621197 | 1.000 | 0.080 | 19 | 8605262 | missense variant | C/A;T | snv | 4.1E-06; 3.1E-02 | 2.9E-02 | 4 | |
rs4800148 | 18 | 23144364 | intron variant | G/A;C | snv | 4 | |||||
rs545608 | 0.925 | 0.040 | 1 | 177929986 | intron variant | G/C | snv | 0.20 | 4 | ||
rs314263 | 6 | 104944870 | intron variant | C/T | snv | 0.69 | 4 | ||||
rs3812049 | 5 | 128083158 | non coding transcript exon variant | C/A;G;T | snv | 4 | |||||
rs41310284 | 10 | 100687890 | intergenic variant | C/A;T | snv | 3 | |||||
rs994014 | 4 | 81244636 | intergenic variant | T/C | snv | 0.43 | 3 | ||||
rs3817428 | 15 | 88872016 | missense variant | C/G | snv | 0.20 | 0.20 | 3 | |||
rs41271299 | 6 | 19839184 | intron variant | C/A;G;T | snv | 3 | |||||
rs17511102 | 2 | 37733470 | intron variant | A/G;T | snv | 3 | |||||
rs2635727 | 1.000 | 0.080 | 6 | 50853227 | downstream gene variant | T/C;G | snv | 2 |