Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs750249283 | 0.925 | 0.080 | 21 | 42296256 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs13051704 | 1.000 | 0.080 | 21 | 42366262 | intron variant | G/C | snv | 8.0E-02 | 1 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs1042579 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 16 | ||
rs2295490 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 16 | ||
rs4810485 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 16 | |||
rs867186 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 15 | |
rs147377392 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 11 | |
rs4358188 | 0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 | 7 | ||
rs1334899057 | 0.882 | 0.160 | 20 | 23035908 | missense variant | T/C | snv | 7.0E-06 | 4 | ||
rs1800576 | 0.925 | 0.080 | 20 | 23049378 | missense variant | C/T | snv | 2.0E-03 | 2.5E-03 | 4 | |
rs374520012 | 0.882 | 0.120 | 20 | 38373994 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs5629 | 0.925 | 0.080 | 20 | 49513169 | stop gained | G/A;T | snv | 4.0E-06; 0.25 | 3 | ||
rs1276663775 | 1.000 | 0.080 | 20 | 23879610 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs2296086 | 1.000 | 0.080 | 20 | 62009016 | non coding transcript exon variant | T/G | snv | 0.15 | 0.11 | 1 | |
rs4407312 | 1.000 | 0.080 | 20 | 23826391 | intron variant | A/C;G;T | snv | 0.76; 4.1E-06; 6.6E-05 | 1 | ||
rs6011456 | 1.000 | 0.080 | 20 | 62899372 | intron variant | T/A;G | snv | 1 | |||
rs6048952 | 1.000 | 0.080 | 20 | 23626620 | downstream gene variant | A/G | snv | 0.27 | 1 | ||
rs6080699 | 1.000 | 0.080 | 20 | 17453641 | intron variant | G/C | snv | 0.26 | 1 | ||
rs6138473 | 1.000 | 0.080 | 20 | 25031519 | intron variant | C/T | snv | 0.38 | 1 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 |