Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
rs28931589 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 13 | |||
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 | |||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 | |||
rs747241612 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 12 | ||
rs759610249 | 0.790 | 0.160 | 4 | 152323032 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 8 | |
rs866987936 | 0.752 | 0.240 | 4 | 152326214 | missense variant | C/A;G;T | snv | 12 | |||
rs867384286 | 0.732 | 0.240 | 4 | 152328233 | missense variant | G/A;C | snv | 4.3E-06 | 14 | ||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs1057519920 | 0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv | 7 | |||
rs1057519921 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 7 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs1057519925 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 23 | |||
rs1057519926 | 0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv | 10 | |||
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 18 | |||
rs1057519929 | 0.776 | 0.320 | 3 | 179199066 | missense variant | G/A | snv | 9 | |||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs1057519933 | 0.790 | 0.240 | 3 | 179199156 | missense variant | A/G | snv | 11 | |||
rs1057519934 | 0.790 | 0.240 | 3 | 179199158 | missense variant | G/C | snv | 11 | |||
rs1057519935 | 0.790 | 0.240 | 3 | 179199157 | missense variant | A/G | snv | 11 |