Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 35 | ||
rs1057519978 | 0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv | 12 | |||
rs587781288 | 0.732 | 0.440 | 17 | 7675190 | missense variant | C/A;T | snv | 15 | |||
rs1057519977 | 0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv | 13 | |||
rs786203071 | 0.776 | 0.240 | 17 | 7675181 | missense variant | T/A;G | snv | 8 | |||
rs786201419 | 0.790 | 0.160 | 17 | 7675180 | missense variant | C/A;T | snv | 8 | |||
rs28934874 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 21 | |||
rs876660754 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 18 | |||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 17 | |||
rs138729528 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 25 | ||
rs587780070 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 23 | ||
rs1057519991 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 19 | ||
rs876660821 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 21 | |||
rs876658468 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 22 | |||
rs786201838 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 23 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 17 | |||
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 | |||
rs587778720 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 25 | ||
rs530941076 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 20 | ||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 24 | ||
rs765848205 | 0.763 | 0.240 | 17 | 7674253 | missense variant | A/C;G;T | snv | 12 | |||
rs587782664 | 0.742 | 0.320 | 17 | 7674252 | missense variant | C/A;G;T | snv | 4.0E-06 | 14 | ||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 20 | |||
rs730882005 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 20 |