Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559320299 | 0.925 | 0.160 | 2 | 222297043 | missense variant | T/A | snv | 4 | |||
rs104893651 | 0.925 | 0.040 | 2 | 222297048 | missense variant | G/A | snv | 2 | |||
rs1228590199 | 0.925 | 0.040 | 2 | 222221372 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1020175890 | 1.000 | 0.040 | 2 | 222221362 | missense variant | C/T | snv | 1 | |||
rs104893650 | 1.000 | 0.040 | 2 | 222297150 | missense variant | G/A | snv | 1 | |||
rs1189463428 | 1.000 | 0.040 | 2 | 222297003 | missense variant | C/T | snv | 1 | |||
rs1356246522 | 1.000 | 0.040 | 2 | 222297089 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
rs1379006499 | 1.000 | 0.040 | 2 | 222294310 | intron variant | G/A;T | snv | 7.0E-06 | 1 | ||
rs1380858784 | 1.000 | 0.040 | 2 | 222221369 | missense variant | G/A | snv | 1 | |||
rs1419548558 | 1.000 | 0.040 | 2 | 222297157 | missense variant | C/A;G;T | snv | 1 | |||
rs147111779 | 1.000 | 0.040 | 2 | 222202134 | stop gained | G/A;C | snv | 2.8E-05 | 2.1E-05 | 1 | |
rs1553572740 | 1.000 | 0.040 | 2 | 222220292 | stop gained | G/A | snv | 1 | |||
rs1553575157 | 1.000 | 0.040 | 2 | 222232079 | missense variant | T/G | snv | 1 | |||
rs1553575159 | 1.000 | 0.040 | 2 | 222232080 | stop gained | G/A | snv | 1 | |||
rs1553575191 | 1.000 | 0.040 | 2 | 222232178 | missense variant | A/G | snv | 1 | |||
rs1553593874 | 1.000 | 0.040 | 2 | 222297030 | missense variant | T/C | snv | 1 | |||
rs1553593917 | 1.000 | 0.040 | 2 | 222297067 | missense variant | C/A | snv | 1 | |||
rs1553593928 | 1.000 | 0.040 | 2 | 222297081 | missense variant | G/A | snv | 1 | |||
rs1553594069 | 1.000 | 0.040 | 2 | 222297215 | splice acceptor variant | T/C | snv | 1 | |||
rs267606931 | 1.000 | 0.040 | 2 | 222297132 | missense variant | C/A | snv | 1 | |||
rs369886550 | 1.000 | 0.040 | 2 | 222202087 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 1 | ||
rs387906947 | 1.000 | 0.040 | 2 | 222297061 | missense variant | G/C | snv | 1 | |||
rs587776586 | 1.000 | 0.040 | 2 | 222297057 | missense variant | C/G | snv | 1 | |||
rs773327091 | 1.000 | 0.040 | 2 | 222297175 | missense variant | C/A;G | snv | 1 | |||
rs774528745 | 1.000 | 0.040 | 2 | 222221368 | missense variant | C/T | snv | 1 |