Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs1057519948 | 0.851 | 0.120 | 7 | 6387262 | missense variant | C/T | snv | 4 | |||
rs1057519977 | 0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv | 13 | |||
rs1057519978 | 0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv | 12 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 20 | |||
rs1057519989 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 15 | |||
rs1057519999 | 0.763 | 0.160 | 17 | 7674247 | missense variant | T/C;G | snv | 12 | |||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 17 | |||
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 21 | |||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 28 | |||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 10 | |||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 20 | |||
rs121913287 | 0.752 | 0.400 | 3 | 179199088 | missense variant | G/A | snv | 11 | |||
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 | |||
rs17849781 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 14 | |||
rs193920774 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 21 | |||
rs28931589 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 13 | |||
rs28934874 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 21 | |||
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 |