Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199681253 | 1.000 | 0.040 | 10 | 76949279 | missense variant | G/A | snv | 1 | |||
rs1373040226 | 1.000 | 0.040 | 5 | 97027769 | frameshift variant | -/G | delins | 1 | |||
rs13026414 | 1.000 | 0.040 | 2 | 57706920 | intergenic variant | C/T | snv | 0.29 | 1 | ||
rs751514645 | 1.000 | 0.040 | 2 | 166036257 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs139145929 | 1.000 | 0.040 | 8 | 67434148 | stop gained | G/A | snv | 3.2E-05 | 2.2E-04 | 1 | |
rs4671319 | 1.000 | 0.040 | 2 | 57723211 | intergenic variant | G/A;T | snv | 1 | |||
rs9833158 | 1.000 | 0.040 | 3 | 16742882 | intergenic variant | G/A | snv | 0.53 | 1 | ||
rs771390 | 1.000 | 0.040 | 1 | 34285335 | intergenic variant | T/A;C | snv | 1 | |||
rs39861 | 1.000 | 0.040 | 5 | 66856430 | intron variant | A/G | snv | 0.25 | 1 | ||
rs61749712 | 1.000 | 0.040 | X | 154031243 | missense variant | G/A;T | snv | 1.7E-04 | 1 | ||
rs868973240 | 1.000 | 0.040 | X | 154032314 | synonymous variant | G/A | snv | 1 | |||
rs12483428 | 1.000 | 0.040 | 21 | 25561470 | upstream gene variant | T/C;G | snv | 1 | |||
rs3815823 | 1.000 | 0.040 | 16 | 29847228 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 1 | |
rs3815824 | 1.000 | 0.040 | 16 | 29841539 | intron variant | C/T | snv | 0.16 | 1 | ||
rs1109771 | 1.000 | 0.040 | 6 | 32219828 | intron variant | A/G | snv | 0.57 | 0.54 | 1 | |
rs915895 | 1.000 | 0.040 | 6 | 32222440 | intron variant | T/C | snv | 0.34 | 1 | ||
rs1553456695 | 1.000 | 0.040 | 2 | 156329859 | frameshift variant | -/C | delins | 1 | |||
rs1394074 | 1.000 | 0.040 | 1 | 114005041 | intron variant | C/G | snv | 2.9E-02 | 1 | ||
rs72700966 | 1.000 | 0.040 | 9 | 10505224 | intron variant | C/G;T | snv | 1 | |||
rs1470522542 | 1.000 | 0.040 | 7 | 103989335 | missense variant | G/A;C | snv | 5.0E-06; 5.0E-06 | 1 | ||
rs880626 | 1.000 | 0.040 | 15 | 60691230 | intron variant | G/A | snv | 0.30 | 1 | ||
rs267608665 | 1.000 | 0.040 | X | 18650520 | stop gained | C/A;T | snv | 5.5E-06; 1.1E-05 | 1 | ||
rs1479913332 | 1.000 | 0.040 | 2 | 166073566 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs770386102 | 1.000 | 0.040 | 2 | 166037822 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs6432877 | 1.000 | 0.040 | 2 | 166142257 | intron variant | C/A;G;T | snv | 1 |