Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs558269137 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 8 | ||
rs1625579 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 5 | ||
rs11585926 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 3 | ||
rs11102800 | 1.000 | 0.040 | 1 | 114498310 | intron variant | C/T | snv | 0.58 | 2 | ||
rs10489525 | 1.000 | 0.040 | 1 | 114721064 | intron variant | G/A | snv | 0.32 | 1 | ||
rs10858047 | 1.000 | 0.040 | 1 | 114531255 | upstream gene variant | T/C | snv | 0.13 | 1 | ||
rs11102807 | 1.000 | 0.040 | 1 | 114518963 | intergenic variant | A/G | snv | 0.44 | 1 | ||
rs11118968 | 1.000 | 0.040 | 1 | 206524916 | intron variant | G/A | snv | 7.5E-02 | 1 | ||
rs11582563 | 1.000 | 0.040 | 1 | 114416918 | intron variant | G/A | snv | 0.14 | 1 | ||
rs11587400 | 1.000 | 0.040 | 1 | 114537037 | non coding transcript exon variant | C/G;T | snv | 1 | |||
rs11589568 | 1.000 | 0.040 | 1 | 114453702 | intron variant | T/C | snv | 0.14 | 1 | ||
rs12726299 | 1.000 | 0.040 | 1 | 115983051 | intron variant | G/A | snv | 0.46 | 1 | ||
rs1877455 | 1.000 | 0.040 | 1 | 114556471 | intergenic variant | C/T | snv | 0.12 | 1 | ||
rs3827735 | 1.000 | 0.040 | 1 | 114510087 | intron variant | C/A;T | snv | 1 | |||
rs4925506 | 1.000 | 0.040 | 1 | 229676242 | intergenic variant | C/G;T | snv | 1 | |||
rs6537825 | 1.000 | 0.040 | 1 | 114405659 | missense variant | A/G | snv | 0.88 | 0.92 | 1 | |
rs6661053 | 1.000 | 0.040 | 1 | 114496497 | intron variant | T/A;C | snv | 1 | |||
rs7511633 | 1.000 | 0.040 | 1 | 114456655 | intron variant | G/A | snv | 0.36 | 1 | ||
rs841361 | 1.000 | 0.040 | 1 | 94686257 | intron variant | C/T | snv | 0.48 | 1 | ||
rs8453 | 1.000 | 0.040 | 1 | 114716978 | 3 prime UTR variant | G/T | snv | 0.11 | 1 | ||
rs926938 | 1.000 | 0.040 | 1 | 114697195 | upstream gene variant | A/G;T | snv | 1 | |||
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 | |||
rs794726827 | 0.827 | 0.120 | 2 | 166054637 | splice donor variant | C/A;G;T | snv | 6 |