Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060500607 | 1.000 | 0.080 | 6 | 7583006 | frameshift variant | -/T | delins | 1 | |||
rs1060500609 | 1.000 | 0.080 | 6 | 7569185 | splice acceptor variant | G/T | snv | 1 | |||
rs1060500610 | 1.000 | 0.080 | 6 | 7581012 | stop gained | C/T | snv | 1 | |||
rs1060500613 | 1.000 | 0.080 | 6 | 7571563 | frameshift variant | G/- | delins | 1 | |||
rs1060500618 | 1.000 | 0.080 | 6 | 7575460 | stop gained | C/T | snv | 1 | |||
rs121912992 | 1.000 | 0.080 | 6 | 7565478 | missense variant | C/G;T | snv | 1.9E-04 | 1 | ||
rs121912999 | 1.000 | 0.080 | 6 | 7585763 | missense variant | G/A | snv | 1 | |||
rs1249913357 | 1.000 | 0.080 | 6 | 7567367 | frameshift variant | CT/- | delins | 1 | |||
rs1554105911 | 1.000 | 0.080 | 6 | 7559267 | frameshift variant | C/- | delins | 1 | |||
rs1554107839 | 1.000 | 0.080 | 6 | 7577848 | frameshift variant | AC/- | del | 1 | |||
rs1554107916 | 1.000 | 0.080 | 6 | 7578521 | frameshift variant | -/GGTT | delins | 1 | |||
rs1554108610 | 1.000 | 0.080 | 6 | 7582722 | frameshift variant | AGTCCTG/- | del | 1 | |||
rs34738426 | 1.000 | 0.080 | 6 | 7581514 | missense variant | G/T | snv | 6.8E-05 | 3.5E-05 | 1 | |
rs767643821 | 1.000 | 0.080 | 6 | 7579995 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06; 4.0E-06 | 1 | ||
rs772646601 | 1.000 | 0.080 | 6 | 7579538 | stop gained | T/A;C | snv | 8.0E-06 | 1 | ||
rs777407386 | 1.000 | 0.080 | 6 | 7579954 | missense variant | G/A;C | snv | 2.0E-05; 1.2E-05 | 1 | ||
rs934142779 | 1.000 | 0.080 | 6 | 7568503 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs113726158 | 0.925 | 0.120 | 6 | 7565357 | splice acceptor variant | A/G;T | snv | 2 | |||
rs1194358112 | 0.925 | 0.120 | 6 | 7584502 | stop gained | G/C;T | snv | 4.0E-06 | 2 | ||
rs1267435790 | 0.925 | 0.120 | 6 | 7570444 | stop gained | C/G;T | snv | 1.2E-05 | 2 | ||
rs1394836623 | 0.925 | 0.120 | 6 | 7581511 | frameshift variant | AGAG/-;AG | delins | 1.4E-05 | 2 | ||
rs141026028 | 0.925 | 0.120 | 6 | 7583758 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs1487814687 | 0.925 | 0.120 | 6 | 7582927 | frameshift variant | GAGA/-;GA | delins | 2 | |||
rs1554106742 | 0.925 | 0.120 | 6 | 7567802 | frameshift variant | A/- | del | 2 | |||
rs1554106743 | 0.925 | 0.120 | 6 | 7567819 | frameshift variant | G/- | delins | 2 |