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 | |||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
rs397508638 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 9 | |||
rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
rs17563161 | 0.882 | 0.040 | 5 | 497509 | intron variant | G/A | snv | 0.18 | 4 | ||
rs7512462 | 0.882 | 0.200 | 1 | 205930467 | intron variant | T/C | snv | 0.38 | 4 | ||
rs1143639 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
rs3788766 | 1.000 | 0.040 | X | 116435671 | upstream gene variant | G/A | snv | 2 | |||
rs1221395132 | 11 | 612721 | missense variant | C/T | snv | 7.0E-06 | 1 | ||||
rs764491141 | 19 | 41352886 | synonymous variant | G/A | snv | 1 | |||||
rs772717932 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121908757 | 0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
rs121909005 | 0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 | 5 | ||
rs1078761 | 1.000 | 0.120 | 20 | 33288875 | missense variant | A/C;G | snv | 4.1E-06; 0.30 | 2 | ||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs1800076 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 10 | ||
rs78655421 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 18 | ||
rs77932196 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 8 | ||
rs28929474 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 37 | ||
rs121917834 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 10 | ||
rs778055276 | 3 | 122555701 | missense variant | T/C | snv | 4.4E-05 | 3.5E-05 | 1 | |||
rs74551128 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 8 | ||
rs74767530 | 0.851 | 0.320 | 7 | 117627537 | stop gained | C/T | snv | 5.6E-05 | 4.9E-05 | 5 |