Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs11674595 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 13 | ||
rs3811047 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 10 | |
rs4851527 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 7 | ||
rs17235416 | 0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 | 6 | ||
rs3917225 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 6 | ||
rs10490571 | 0.827 | 0.320 | 2 | 102100877 | intron variant | C/T | snv | 0.29 | 5 | ||
rs3731865 | 0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 | 5 | ||
rs2723176 | 0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv | 4 | |||
rs12998782 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 3 | ||
rs201565523 | 0.925 | 0.240 | 2 | 218390027 | missense variant | C/T | snv | 2.9E-04 | 7.7E-05 | 3 | |
rs3755276 | 0.925 | 0.120 | 2 | 102361999 | intron variant | C/T | snv | 0.45 | 3 | ||
rs1055229 | 1.000 | 0.040 | 2 | 207666959 | non coding transcript exon variant | C/T | snv | 0.26 | 2 | ||
rs1135791 | 0.925 | 0.080 | 2 | 230177560 | missense variant | A/G | snv | 0.42 | 0.40 | 2 | |
rs1974675 | 1.000 | 0.040 | 2 | 102369915 | intron variant | G/A | snv | 0.45 | 2 | ||
rs2723186 | 0.925 | 0.160 | 2 | 112917503 | intron variant | A/G;T | snv | 0.91 | 2 | ||
rs2723187 | 1.000 | 0.040 | 2 | 112917692 | missense variant | C/T | snv | 6.8E-02 | 1.0E-01 | 2 | |
rs34448891 | 0.925 | 0.160 | 2 | 218381927 | upstream gene variant | TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG | delins | 2 | |||
rs3731863 | 0.925 | 0.040 | 2 | 218387485 | intron variant | C/T | snv | 8.0E-02 | 2 | ||
rs6751745 | 0.925 | 0.080 | 2 | 118983428 | intron variant | C/T | snv | 0.31 | 2 | ||
rs772717932 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 2 | ||
rs80292941 | 1.000 | 0.040 | 2 | 87480257 | non coding transcript exon variant | A/T | snv | 0.16 | 2 | ||
rs9061 | 0.925 | 0.080 | 2 | 230212395 | missense variant | C/T | snv | 0.11 | 9.1E-02 | 2 | |
rs956730 | 0.925 | 0.120 | 2 | 102141656 | intron variant | G/A | snv | 0.42 | 2 |