Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854052 | 1.000 | 0.120 | 16 | 2058765 | frameshift variant | -/C | delins | 1 | |||
rs137854106 | 1.000 | 0.120 | 16 | 2079357 | frameshift variant | A/- | delins | 1 | |||
rs137854329 | 1.000 | 0.120 | 16 | 2085238 | frameshift variant | -/T | delins | 1 | |||
rs1430119276 | 1.000 | 0.120 | 16 | 2079096 | missense variant | G/T | snv | 7.0E-06 | 1 | ||
rs1459518095 | 1.000 | 0.120 | 16 | 2084552 | missense variant | C/G;T | snv | 4.2E-06 | 1 | ||
rs397515225 | 1.000 | 0.120 | 16 | 2080366 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs45460895 | 1.000 | 0.120 | 16 | 2055520 | splice donor variant | G/A | snv | 1 | |||
rs45488500 | 1.000 | 0.120 | 16 | 2054441 | splice donor variant | G/T | snv | 1 | |||
rs45509500 | 1.000 | 0.120 | 16 | 2072923 | synonymous variant | C/G;T | snv | 4.0E-06; 5.6E-05 | 1 | ||
rs45517115 | 1.000 | 0.120 | 16 | 2055518 | stop gained | C/T | snv | 1 | |||
rs45517201 | 1.000 | 0.120 | 16 | 2070531 | missense variant | T/C | snv | 1 | |||
rs45517278 | 1.000 | 0.120 | 16 | 2079090 | missense variant | G/T | snv | 1 | |||
rs754504918 | 1.000 | 0.120 | 16 | 2071816 | missense variant | G/A | snv | 1 | |||
rs764288120 | 1.000 | 0.120 | 16 | 2061983 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs993614997 | 1.000 | 0.120 | 16 | 2081714 | missense variant | C/T | snv | 2.1E-05 | 1 | ||
rs45517423 | 1.000 | 0.120 | 16 | 2088569 | missense variant | C/T | snv | 1.5E-03 | 1.5E-03 | 1 | |
rs1060500931 | 0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv | 2 | |||
rs1114167462 | 1.000 | 0.120 | 16 | 2062533 | stop gained | C/T | snv | 2 | |||
rs1567533189 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 2 | |||
rs376285784 | 1.000 | 0.120 | 16 | 2064342 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs397514914 | 1.000 | 0.120 | 16 | 2071534 | missense variant | C/T | snv | 2 | |||
rs397514916 | 0.925 | 0.120 | 16 | 2083754 | missense variant | C/G;T | snv | 2 | |||
rs45438205 | 0.925 | 0.120 | 16 | 2080365 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs45483392 | 0.925 | 0.120 | 16 | 2087897 | missense variant | C/A;T | snv | 2 | |||
rs45487497 | 0.925 | 0.120 | 16 | 2058779 | missense variant | G/A | snv | 2 |