Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs117224174 | 1.000 | 0.040 | 6 | 114654261 | intergenic variant | G/A | snv | 2.2E-02 | 1 | ||
rs150828104 | 1.000 | 0.040 | 12 | 116337891 | regulatory region variant | TTTTGTTTTG/-;TTTTG;TTTTGTTTTGTTTTG;TTTTGTTTTGTTTTGTTTTG | delins | 1 | |||
rs111600634 | 1.000 | 0.040 | 9 | 117856347 | intron variant | T/G | snv | 1.5E-02 | 1 | ||
rs16906350 | 1.000 | 0.040 | 9 | 117856678 | intron variant | C/T | snv | 3.4E-02 | 1 | ||
rs8191664 | 0.807 | 0.200 | 8 | 11786044 | missense variant | G/A;C;T | snv | 4.0E-05; 3.8E-02 | 7 | ||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs138901640 | 1.000 | 0.040 | 9 | 118031487 | intron variant | A/G | snv | 5.5E-03 | 1 | ||
rs17637172 | 1.000 | 0.040 | 9 | 119461680 | intergenic variant | G/T | snv | 8.8E-03 | 1 | ||
rs190548934 | 1.000 | 0.040 | 9 | 119471312 | intergenic variant | T/G | snv | 8.8E-03 | 1 | ||
rs3755557 | 0.807 | 0.280 | 3 | 120096110 | non coding transcript exon variant | T/A | snv | 0.14 | 6 | ||
rs150934526 | 1.000 | 0.040 | 5 | 121330628 | intron variant | T/C | snv | 1.1E-02 | 1 | ||
rs150616616 | 1.000 | 0.040 | 5 | 121366663 | downstream gene variant | C/G;T | snv | 1 | |||
rs2070045 | 0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 | 4 | |
rs201435717 | 1.000 | 0.040 | 6 | 122472555 | intron variant | -/T | delins | 9.1E-03 | 1 | ||
rs113993970 | 0.925 | 0.240 | 10 | 122506817 | stop gained | C/T | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs73078593 | 1.000 | 0.040 | 20 | 12310875 | intron variant | C/A | snv | 4.1E-02 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs7561528 | 0.882 | 0.080 | 2 | 127132061 | intergenic variant | G/A | snv | 0.28 | 3 | ||
rs117129097 | 1.000 | 0.040 | 12 | 128054737 | intron variant | C/G;T | snv | 1.9E-03 | 1 | ||
rs12230170 | 1.000 | 0.040 | 12 | 128762838 | intergenic variant | T/A;G | snv | 1 | |||
rs117605016 | 1.000 | 0.040 | 12 | 129129840 | intron variant | C/A | snv | 9.9E-03 | 1 | ||
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 |