Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200484060 | 1.000 | 18 | 31536370 | missense variant | T/G | snv | 5.6E-05 | 1.4E-05 | 4 | ||
rs45544633 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 4 | |||
rs10927875 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 3 | ||
rs121912998 | 1.000 | 0.040 | 6 | 7542003 | missense variant | G/A | snv | 1.6E-03 | 1.1E-03 | 3 | |
rs121918086 | 1.000 | 0.120 | 18 | 31595160 | missense variant | G/A | snv | 3 | |||
rs1242465339 | 1.000 | 0.080 | 19 | 29207763 | stop gained | G/A;T | snv | 7.0E-06 | 3 | ||
rs1568344751 | 1.000 | 0.080 | 19 | 29208159 | splice acceptor variant | C/G | snv | 3 | |||
rs1568346416 | 1.000 | 0.080 | 19 | 29213078 | missense variant | A/T | snv | 3 | |||
rs267607486 | 1.000 | 0.160 | 2 | 219420346 | missense variant | G/A;C | snv | 3 | |||
rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 3 | |||
rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
rs397516028 | 1.000 | 0.080 | 11 | 47332594 | missense variant | A/G | snv | 3 | |||
rs397516142 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 3 | ||
rs587777425 | 1.000 | 1 | 160237145 | missense variant | G/A;T | snv | 3 | ||||
rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
rs121912677 | 1.000 | 0.080 | 15 | 34793326 | missense variant | T/C | snv | 2 | |||
rs121918070 | 1.000 | 0.120 | 18 | 31595157 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs1425855043 | 1.000 | 0.080 | 12 | 32878105 | stop gained | C/A | snv | 2 | |||
rs144983062 | 1.000 | 0.080 | 12 | 55693209 | missense variant | C/T | snv | 4.3E-03 | 3.4E-03 | 2 | |
rs1465957886 | 1.000 | 0.120 | 3 | 165046930 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs147435491 | 1.000 | 0.080 | 9 | 133730099 | missense variant | C/T | snv | 6.4E-05 | 7.0E-05 | 2 | |
rs150815925 | 1.000 | 0.040 | 14 | 23388321 | missense variant | C/T | snv | 4.0E-06; 3.9E-04 | 4.3E-04 | 2 | |
rs1555122928 | 1.000 | 0.080 | 11 | 47347434 | frameshift variant | C/- | del | 2 | |||
rs1565631430 | 1.000 | 0.080 | 11 | 47350600 | frameshift variant | ATGGGCTCTG/- | del | 2 | |||
rs193922697 | 1.000 | 0.040 | 7 | 151576438 | missense variant | G/A;T | snv | 1.6E-05 | 2 |