Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 16 | |||
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 16 | |||
rs942158624 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 16 | |||
rs967461896 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 16 | |||
rs985033810 | 0.724 | 0.280 | 17 | 7674232 | missense variant | C/A;G;T | snv | 16 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 | |||
rs1057519989 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 15 | |||
rs121912655 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 15 | |||
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 | |||
rs1057519895 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 14 | |||
rs17849781 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 14 | |||
rs587782664 | 0.742 | 0.320 | 17 | 7674252 | missense variant | C/A;G;T | snv | 4.0E-06 | 14 | ||
rs730882025 | 0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv | 14 | |||
rs867384286 | 0.732 | 0.240 | 4 | 152328233 | missense variant | G/A;C | snv | 4.3E-06 | 14 | ||
rs377767347 | 0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv | 13 | |||
rs1057519896 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 12 | |||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 | |||
rs765848205 | 0.763 | 0.240 | 17 | 7674253 | missense variant | A/C;G;T | snv | 12 | |||
rs1057519883 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 11 | |||
rs1057520004 | 0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv | 11 | |||
rs375874539 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 11 | |||
rs80338963 | 0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv | 11 | |||
rs1057519986 | 0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv | 10 | |||
rs1057519988 | 0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv | 10 |