Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs867262025 | 0.790 | 0.360 | 3 | 179221146 | missense variant | G/A | snv | 9 | |||
rs1057519928 | 0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv | 8 | |||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 35 | |||
rs34968276 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 9 | |||
rs1057519881 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 8 | |||
rs121913385 | 0.763 | 0.240 | 9 | 21971112 | missense variant | G/A;C | snv | 8 | |||
rs1057519883 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 11 | |||
rs1057519816 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 10 | |||
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
rs28931589 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 13 | |||
rs371769427 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 9 | ||
rs1023835002 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 10 | |||
rs1057519879 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 10 | |||
rs1057519877 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 10 | |||
rs1057519951 | 0.882 | 0.080 | 3 | 49375472 | missense variant | C/G;T | snv | 4 | |||
rs80338963 | 0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv | 11 | |||
rs377767347 | 0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv | 13 | |||
rs1057519946 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 17 | |||
rs1057519947 | 0.790 | 0.160 | 19 | 52212730 | missense variant | G/A | snv | 9 | |||
rs121913496 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 11 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 |