Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137853106 | 1.000 | 0.280 | 8 | 93782456 | missense variant | A/C | snv | 1 | |||
rs386834181 | 1.000 | 0.280 | 8 | 93781744 | splice donor variant | G/- | delins | 1 | |||
rs386834183 | 1.000 | 0.280 | 8 | 93786256 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
rs386834184 | 1.000 | 0.280 | 8 | 93786270 | missense variant | G/C;T | snv | 4.0E-06 | 1 | ||
rs386834186 | 1.000 | 0.280 | 8 | 93791280 | frameshift variant | AT/- | delins | 1 | |||
rs386834187 | 1.000 | 0.280 | 8 | 93791320 | splice donor variant | G/A | snv | 1 | |||
rs386834188 | 1.000 | 0.280 | 8 | 93755075 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs386834189 | 1.000 | 0.280 | 8 | 93797372 | missense variant | T/C | snv | 1 | |||
rs386834190 | 1.000 | 0.280 | 8 | 93755776 | splice acceptor variant | A/- | del | 9.6E-05 | 1 | ||
rs386834191 | 1.000 | 0.280 | 8 | 93803662 | frameshift variant | T/- | delins | 1 | |||
rs386834193 | 1.000 | 0.280 | 8 | 93804796 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs386834194 | 1.000 | 0.280 | 8 | 93808928 | missense variant | A/G | snv | 1.4E-05 | 1 | ||
rs386834195 | 1.000 | 0.280 | 8 | 93808942 | stop gained | G/T | snv | 1 | |||
rs386834196 | 1.000 | 0.280 | 8 | 93809057 | stop gained | A/T | snv | 1 | |||
rs386834197 | 1.000 | 0.280 | 8 | 93809056 | frameshift variant | -/A | delins | 1 | |||
rs386834198 | 1.000 | 0.280 | 8 | 93809811 | frameshift variant | -/TA | delins | 1 | |||
rs386834199 | 1.000 | 0.280 | 8 | 93815437 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs386834200 | 1.000 | 0.280 | 8 | 93758552 | frameshift variant | AC/- | delins | 1 | |||
rs386834201 | 1.000 | 0.280 | 8 | 93758557 | stop gained | T/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs386834203 | 1.000 | 0.280 | 8 | 93765574 | frameshift variant | A/- | del | 1 | |||
rs386834204 | 1.000 | 0.280 | 8 | 93765642 | frameshift variant | A/- | delins | 1 | |||
rs386834206 | 1.000 | 0.280 | 8 | 93780612 | missense variant | C/T | snv | 1 | |||
rs386834207 | 1.000 | 0.280 | 8 | 93780872 | splice acceptor variant | A/G | snv | 1 | |||
rs386834208 | 1.000 | 0.280 | 8 | 93780892 | missense variant | G/T | snv | 8.0E-06 | 1 | ||
rs786205126 | 1.000 | 0.280 | 8 | 93809876 | inframe deletion | CTT/- | delins | 1 |