Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs781565158 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 22 | |
rs104894201 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 12 | |||
rs121918312 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 11 | |||
rs869320701 | 0.925 | 0.080 | 7 | 157367408 | missense variant | T/A;G | snv | 8 | |||
rs121913003 | 0.882 | 0.200 | 2 | 219421532 | missense variant | C/T | snv | 6 | |||
rs869320740 | 0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 | 5 | ||
rs121908458 | 0.882 | 0.120 | 5 | 137870830 | missense variant | C/G;T | snv | 3.6E-05 | 4 | ||
rs1555631390 | 0.851 | 0.160 | 18 | 31595128 | inframe insertion | -/AGTCTG | delins | 4 | |||
rs58898021 | 0.925 | 0.160 | 2 | 219421385 | missense variant | G/C | snv | 3 | |||
rs121909518 | 0.882 | 0.120 | 7 | 128858475 | stop gained | G/A | snv | 3 | |||
rs121908334 | 0.925 | 0.080 | 10 | 86687218 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs281865142 | 0.925 | 0.080 | 11 | 111908949 | frameshift variant | A/- | del | 4.0E-06 | 1.4E-05 | 2 | |
rs267607485 | 0.925 | 0.160 | 2 | 219425720 | missense variant | A/C | snv | 2 | |||
rs41272699 | 0.925 | 0.160 | 2 | 219420154 | missense variant | C/T | snv | 9.2E-03 | 1.0E-02 | 2 | |
rs60538473 | 0.925 | 0.160 | 2 | 219418977 | inframe deletion | CGCGCGTCGACGTCGAGCGCG/- | delins | 2 | |||
rs60798368 | 0.925 | 0.160 | 2 | 219418508 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs61130669 | 0.925 | 0.160 | 2 | 219421511 | missense variant | G/T | snv | 2 | |||
rs768941858 | 1.000 | 0.080 | 7 | 128854900 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 2 | |
rs281865141 | 0.925 | 0.080 | 11 | 111911665 | frameshift variant | G/- | delins | 2 | |||
rs28937597 | 0.925 | 0.080 | 5 | 137870821 | missense variant | C/T | snv | 2 | |||
rs758552293 | 1.000 | 0.080 | X | 136209950 | missense variant | C/G;T | snv | 5.4E-06; 5.4E-06 | 1 | ||
rs775180716 | 1.000 | 0.080 | 10 | 86692544 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1264310581 | 1.000 | 0.080 | 5 | 137870667 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs368434732 | 1.000 | 0.080 | 4 | 94587000 | missense variant | C/A;T | snv | 8.5E-06 | 1 |