Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918501 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 6 | |||
rs121918488 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 7 | |||
rs121918505 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 5 | |||
rs121918499 | 0.925 | 0.160 | 10 | 121520048 | missense variant | C/A;G | snv | 2 | |||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
rs121918487 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 25 | |||
rs28931615 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 13 | |||
rs776587763 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs1358919643 | 1.000 | 0.080 | 10 | 121517463 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs121918491 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 15 | ||
rs1554927408 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 12 | |||
rs1057519044 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 11 | |||
rs1554552774 | 0.925 | 0.200 | 8 | 38418227 | splice donor variant | C/T | snv | 2 | |||
rs879253719 | 1.000 | 0.080 | 10 | 121517464 | splice acceptor variant | C/T | snv | 1 | |||
rs886037837 | 1.000 | 0.080 | 10 | 121520037 | inframe deletion | CGTGCTTGATCCACTGGA/- | delins | 1 | |||
rs121909641 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 9 | |||
rs1554570706 | 0.925 | 0.200 | 8 | 38429808 | missense variant | G/A | snv | 2 | |||
rs1554570813 | 0.925 | 0.200 | 8 | 38429826 | stop gained | G/A | snv | 2 | |||
rs79184941 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 41 | ||
rs77543610 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 28 | |||
rs374608214 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 13 | |
rs121918502 | 0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv | 9 | |||
rs121909627 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 8 | ||
rs1057519037 | 0.925 | 0.120 | 10 | 121520084 | missense variant | GC/AA;TA | mnv | 2 | |||
rs121918503 | 1.000 | 0.080 | 10 | 121520098 | inframe deletion | GTC/- | delins | 1 |