Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 19 | |||
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 | |||
rs1057519963 | 0.925 | 0.080 | 2 | 39054637 | missense variant | T/A | snv | 2 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs1057519886 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 11 | |||
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 | |||
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 | |||
rs121913228 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 11 | |||
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 21 | |||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 28 | |||
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 10 | |||
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 |