Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2297440 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 10 | ||
rs498872 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 10 | |||
rs2293157 | 0.763 | 0.120 | 17 | 42300657 | intron variant | C/A;T | snv | 9 | |||
rs3024994 | 0.776 | 0.120 | 6 | 43775770 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 8 | ||
rs1135401891 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 7 | |||
rs12885300 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 7 | |||
rs149840192 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 7 | |||
rs753152604 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 7 | |||
rs63750949 | 0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv | 6 | |||
rs1005230 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 5 | ||
rs17296479 | 0.851 | 0.040 | 5 | 81411157 | non coding transcript exon variant | T/A | snv | 9.4E-02 | 5 | ||
rs2234248 | 0.827 | 0.040 | 6 | 41163980 | upstream gene variant | A/G | snv | 2.2E-03 | 5 | ||
rs2440472 | 0.827 | 0.080 | 16 | 56402912 | intron variant | A/G | snv | 0.61 | 5 | ||
rs3092993 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 5 | ||
rs1029044314 | 0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv | 4 | |||
rs1306185959 | 0.851 | 0.040 | 8 | 38429805 | missense variant | T/C | snv | 7.0E-06 | 4 | ||
rs1340827343 | 0.851 | 0.040 | 6 | 31165259 | missense variant | C/T | snv | 4 | |||
rs1381537616 | 0.851 | 0.040 | 7 | 27174132 | missense variant | C/T | snv | 4 | |||
rs144551722 | 0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 | 4 | ||
rs2017309 | 0.851 | 0.040 | 22 | 28735438 | intron variant | T/A | snv | 0.23 | 4 | ||
rs28357681 | 0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv | 4 | |||
rs8057643 | 0.851 | 0.040 | 16 | 6910689 | intron variant | C/A;T | snv | 4 | |||
rs764803020 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 5 | ||
rs1453633223 | 0.807 | 0.080 | 9 | 21974503 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs1373481065 | 0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 | 6 |