Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs1057519895 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 14 | |||
rs1057519896 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 12 | |||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs1057519938 | 0.776 | 0.160 | 3 | 179203764 | missense variant | A/C;T | snv | 10 | |||
rs1057519939 | 0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv | 10 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/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 | |||
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 | |||
rs1057519991 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 19 | ||
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 16 | |||
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 | |||
rs1057520004 | 0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv | 11 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 17 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 42 | ||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 35 | ||
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs121912655 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 15 | |||
rs121912656 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 20 |