Source: UNIPROT
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17224367 | 0.882 | 0.160 | 2 | 47429833 | missense variant | C/G;T | snv | 1.5E-03 | 2 | ||
rs63750492 | 0.925 | 0.160 | 2 | 47466663 | missense variant | G/T | snv | 2 | |||
rs63750716 | 0.925 | 0.160 | 2 | 47410232 | missense variant | A/G | snv | 4.7E-04 | 1.3E-04 | 2 | |
rs267607706 | 0.882 | 0.160 | 3 | 36993661 | missense variant | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs63750648 | 0.882 | 0.160 | 3 | 36993602 | missense variant | A/T | snv | 1 | |||
rs63750617 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 1 | ||
rs267607727 | 0.925 | 0.160 | 3 | 37001049 | splice donor variant | G/A;T | snv | 1 | |||
rs63749990 | 0.925 | 0.160 | 3 | 37000985 | missense variant | T/G | snv | 1 | |||
rs63750193 | 0.851 | 0.160 | 3 | 37040276 | missense variant | T/C | snv | 1 | |||
rs63750453 | 0.882 | 0.160 | 3 | 37001051 | missense variant | G/A | snv | 1 | |||
rs63750610 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 1 | |||
rs63750781 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs63750706 | 0.882 | 0.160 | 3 | 36993609 | missense variant | C/A;T | snv | 1 | |||
rs1085308057 | 0.925 | 0.160 | 2 | 47475244 | missense variant | A/G | snv | 1 | |||
rs1371291280 | 1.000 | 0.160 | 2 | 47466702 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
rs146421227 | 0.882 | 0.160 | 2 | 47482912 | missense variant | T/A | snv | 7.0E-06 | 1 | ||
rs1553350676 | 1.000 | 0.160 | 2 | 47410143 | missense variant | A/G | snv | 1 | |||
rs17217772 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 1 | ||
rs193922373 | 1.000 | 0.160 | 2 | 47408493 | missense variant | G/A | snv | 2.4E-05 | 1 | ||
rs201118107 | 1.000 | 0.160 | 2 | 47471051 | missense variant | A/C;G;T | snv | 8.0E-06; 1.0E-04; 1.2E-05 | 1 | ||
rs267607938 | 1.000 | 0.160 | 2 | 47416344 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 1 | |
rs267607959 | 1.000 | 0.160 | 2 | 47463053 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
rs267607980 | 1.000 | 0.160 | 2 | 47475093 | missense variant | C/A;T | snv | 1 | |||
rs267607981 | 1.000 | 0.160 | 2 | 47475177 | missense variant | A/G | snv | 1 | |||
rs267607982 | 1.000 | 0.160 | 2 | 47475198 | stop gained | C/G;T | snv | 1.2E-05 | 1 |