Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6330 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 12 | |
rs4730751 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 4 | ||
rs2266788 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 19 | ||
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs10068737 | 5 | 118700852 | intergenic variant | T/A;C | snv | 1 | |||||
rs1564858 | 8 | 118932927 | splice region variant | G/A | snv | 0.11 | 9.9E-02 | 1 | |||
rs3134069 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 11 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs2393778 | 1.000 | 0.080 | 12 | 120702516 | upstream gene variant | G/C;T | snv | 2 | |||
rs2014355 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 4 | ||
rs1799958 | 0.882 | 0.160 | 12 | 120738280 | missense variant | G/A | snv | 0.26 | 0.21 | 4 | |
rs34708625 | 1.000 | 0.080 | 12 | 120742216 | intron variant | T/C | snv | 0.21 | 2 | ||
rs12313273 | 0.882 | 0.160 | 12 | 121625105 | upstream gene variant | T/C | snv | 0.23 | 4 | ||
rs883484 | 9 | 122362748 | intergenic variant | C/T | snv | 0.20 | 1 | ||||
rs1300938986 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs10865710 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 13 | ||
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 | |||
rs375411329 | 3 | 12379746 | missense variant | A/G | snv | 7.0E-06 | 1 | ||||
rs121917832 | 0.925 | 0.200 | 12 | 12718066 | stop gained | G/A | snv | 3 | |||
rs686548 | 1.000 | 0.080 | 20 | 12992873 | intron variant | A/T | snv | 0.70 | 2 | ||
rs1009840 | 6 | 134225547 | intron variant | G/A | snv | 0.53 | 1 | ||||
rs12575381 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 1 |