Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
rs2281068 | 0.925 | 0.080 | X | 129653796 | intron variant | T/C | snv | 0.31 | 3 | ||
rs3115757 | 0.925 | 0.120 | X | 129648435 | intron variant | C/G | snv | 0.26 | 3 | ||
rs1206634 | 1.000 | 0.040 | X | 96302380 | intron variant | T/A;G | snv | 2 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs1800206 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 35 | |
rs4821480 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 9 | ||
rs71785313 | 0.882 | 0.120 | 22 | 36265996 | inframe deletion | TTATAA/- | delins | 5 | |||
rs774887459 | 0.882 | 0.080 | 22 | 40405776 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs12107 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 3 | |||
rs4253778 | 1.000 | 0.040 | 22 | 46234737 | intron variant | G/C;T | snv | 3 | |||
rs4253776 | 1.000 | 0.040 | 22 | 46233582 | intron variant | A/G | snv | 0.21 | 2 | ||
rs5756152 | 1.000 | 0.040 | 22 | 36316427 | intron variant | A/G | snv | 0.90 | 2 | ||
rs769370836 | 1.000 | 0.040 | 22 | 39968202 | missense variant | A/G | snv | 6.8E-05 | 7.0E-06 | 2 | |
rs11203203 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 9 | ||
rs3765209 | 0.851 | 0.040 | 21 | 15417030 | intron variant | C/T | snv | 0.31 | 7 | ||
rs460976 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 7 | |||
rs8133052 | 0.925 | 0.120 | 21 | 36135203 | missense variant | G/A;C | snv | 0.44 | 6 | ||
rs10084572 | 1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv | 3 | |||
rs1543654 | 1.000 | 0.040 | 21 | 34426752 | upstream gene variant | T/C | snv | 2 | |||
rs372098146 | 1.000 | 0.040 | 21 | 43753698 | missense variant | C/A;G | snv | 4.0E-06; 2.8E-05 | 2 | ||
rs377592729 | 1.000 | 0.040 | 21 | 43748998 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs2295490 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 16 |