Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 21 | |||
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 | |||
rs281864719 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 14 | |||
rs863225281 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 12 | |||
rs1470755915 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 10 | ||
rs1024708183 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 4 | |||
rs1131691041 | 17 | 7676271 | frameshift variant | -/A | delins | 3 | |||||
rs3087468 | 16 | 2040233 | missense variant | C/A | snv | 3 | |||||
rs1383997 | 8 | 72005483 | intron variant | T/C | snv | 0.58 | 1 | ||||
rs1395746092 | 19 | 43575449 | missense variant | T/C | snv | 7.0E-06 | 1 | ||||
rs1486253194 | 3 | 14146063 | frameshift variant | CCAGTATCCTGGCC/- | del | 7.0E-06 | 1 | ||||
rs2824215 | 21 | 17063088 | intergenic variant | A/C | snv | 0.34 | 1 | ||||
rs749251734 | 3 | 14147981 | frameshift variant | GACGATGTATCCA/- | delins | 1 | |||||
rs773632957 | 19 | 45368650 | missense variant | T/G | snv | 1 | |||||
rs983889 | 5 | 15555377 | intron variant | G/T | snv | 0.55 | 1 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs3745274 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 30 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 |