Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3764880 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 11 | |
rs2106809 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 8 | ||
rs114209171 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 5 | ||
rs762890235 | 0.827 | 0.240 | X | 15578220 | missense variant | G/T | snv | 3.8E-05 | 9.5E-06 | 5 | |
rs6632677 | 0.851 | 0.120 | X | 15596749 | intron variant | G/C | snv | 5.0E-03 | 4 | ||
rs2801231 | 1.000 | 0.080 | X | 122083259 | intergenic variant | T/A;C;G | snv | 2 | |||
rs2897827 | 1.000 | 0.080 | X | 12865427 | upstream gene variant | C/T | snv | 7.2E-02 | 1 | ||
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs2228314 | 0.790 | 0.360 | 22 | 41880738 | missense variant | G/C | snv | 0.34 | 0.38 | 8 | |
rs4044210 | 0.925 | 0.080 | 22 | 46390418 | missense variant | T/A;C | snv | 4.0E-06; 0.17 | 3 | ||
rs6007897 | 0.925 | 0.080 | 22 | 46384624 | missense variant | T/C | snv | 0.16 | 0.28 | 3 | |
rs6151425 | 0.925 | 0.160 | 22 | 50625640 | missense variant | G/A;C;T | snv | 3.4E-02 | 2 | ||
rs2240183 | 1.000 | 0.080 | 22 | 30966153 | intron variant | C/T | snv | 0.40 | 1 | ||
rs5752326 | 1.000 | 0.080 | 22 | 26448024 | intron variant | C/G;T | snv | 1 | |||
rs1051266 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 41 | ||
rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 40 | ||
rs767649 | 0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 | 18 | ||
rs2834167 | 0.752 | 0.360 | 21 | 33268483 | missense variant | A/G | snv | 0.33 | 0.25 | 11 | |
rs57137919 | 0.776 | 0.160 | 21 | 42218908 | intron variant | G/A | snv | 0.14 | 9 | ||
rs9722 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 9 | |
rs12659 | 0.925 | 0.120 | 21 | 45531642 | synonymous variant | A/G | snv | 0.58 | 0.57 | 2 | |
rs1378577 | 1.000 | 0.080 | 21 | 42199555 | upstream gene variant | T/G | snv | 0.33 | 2 | ||
rs999788 | 0.925 | 0.120 | 21 | 33265726 | non coding transcript exon variant | C/T | snv | 0.20 | 2 | ||
rs117440128 | 1.000 | 0.080 | 21 | 35801864 | intron variant | G/A | snv | 6.2E-03 | 1 | ||
rs2825226 | 1.000 | 0.080 | 21 | 18909856 | intergenic variant | G/A | snv | 0.27 | 1 |