Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1234442507 | 1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 | 3 | ||
rs2138533 | 1.000 | 0.120 | 2 | 188972486 | upstream gene variant | T/A;C | snv | 3 | |||
rs463312 | 1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 | 4 | |
rs5070 | 0.882 | 0.160 | 11 | 116837304 | intron variant | A/G | snv | 0.56 | 0.60 | 5 | |
rs7692387 | 0.925 | 0.080 | 4 | 155714157 | intron variant | G/A | snv | 0.16 | 5 | ||
rs2066718 | 0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 | 7 | ||
rs2359612 | 0.851 | 0.120 | 16 | 31092475 | intron variant | A/G | snv | 0.66 | 7 | ||
rs532019808 | 0.827 | 0.120 | 11 | 89451807 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 8 | ||
rs2266780 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 9 | |
rs880315 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 9 | ||
rs11739136 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 10 | |
rs201058276 | 0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 11 | ||
rs20455 | 0.763 | 0.160 | 6 | 39357302 | missense variant | A/G | snv | 0.41 | 0.49 | 12 | |
rs5065 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 12 | |
rs4580704 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 13 | ||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs11066001 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 15 | ||
rs17321515 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 16 | ||
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs751141 | 0.732 | 0.400 | 8 | 27516348 | missense variant | G/A | snv | 0.12 | 0.10 | 16 | |
rs11053646 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 18 | |
rs1051931 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 19 | |
rs1183194405 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 19 | ||
rs261332 | 0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 | 20 | ||
rs11556924 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 21 |