Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2375801 | 4 | 186550471 | intron variant | T/C | snv | 0.34 | 1 | ||||
rs2994809 | 1 | 119809354 | intron variant | T/C | snv | 0.91 | 1 | ||||
rs353630 | 1.000 | 0.080 | 11 | 35166644 | intron variant | G/A | snv | 0.33 | 1 | ||
rs3804639 | 3 | 108071988 | intron variant | G/T | snv | 0.28 | 1 | ||||
rs684559 | 1 | 111215824 | intron variant | G/A | snv | 0.27 | 1 | ||||
rs946486 | 9 | 130770618 | intron variant | C/T | snv | 0.44 | 1 | ||||
rs13387042 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 15 | ||
rs4442975 | 0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 | 7 | ||
rs7553007 | 0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 | 6 | ||
rs2660852 | 12 | 96051770 | intergenic variant | C/A | snv | 0.34 | 3 | ||||
rs10964862 | 9 | 21151554 | intergenic variant | C/A;G | snv | 1 | |||||
rs116909374 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 9 | ||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 29 | |||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 6 | ||
rs1370041903 | 0.925 | 0.120 | 6 | 161350185 | stop gained | G/A | snv | 3 | |||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 2 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 221 | ||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 |