Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786203436 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 15 | |||
rs876659802 | 0.732 | 0.440 | 17 | 7673787 | missense variant | G/A;C;T | snv | 15 | |||
rs17849781 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 14 | |||
rs397517201 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 14 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 13 | |||
rs28931589 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 13 | |||
rs1057519896 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 12 | |||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 12 | |||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 | |||
rs398124146 | 0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv | 12 | |||
rs747241612 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 12 | ||
rs866987936 | 0.752 | 0.240 | 4 | 152326214 | missense variant | C/A;G;T | snv | 12 | |||
rs1057519883 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 11 | |||
rs1057519884 | 0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv | 11 | |||
rs121913496 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 11 | |||
rs397516896 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 11 | |||
rs1023835002 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 10 | |||
rs1057519877 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 10 | |||
rs1057519879 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 10 | |||
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
rs1057519941 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 9 | |||
rs121913351 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 9 | ||
rs34968276 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 9 | |||
rs869025608 | 0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv | 9 | |||
rs1057519881 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 8 |