Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs186630563 | 1.000 | 0.040 | X | 8699739 | missense variant | C/T | snv | 2.1E-04 | 7.2E-04 | 1 | |
rs1224900173 | 1.000 | 0.040 | 4 | 147519933 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1064793123 | 1.000 | 0.040 | 8 | 38421859 | missense variant | G/A | snv | 1 | |||
rs727505377 | 1.000 | 0.040 | 8 | 38414001 | missense variant | A/G | snv | 1 | |||
rs104893838 | 1.000 | 0.040 | 4 | 67753950 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 1 | ||
rs104893839 | 1.000 | 0.040 | 4 | 67744659 | missense variant | G/T | snv | 1 | |||
rs104893840 | 1.000 | 0.040 | 4 | 67753832 | missense variant | A/T | snv | 1 | |||
rs104893841 | 1.000 | 0.040 | 4 | 67740526 | stop gained | A/T | snv | 1 | |||
rs1391808526 | 1.000 | 0.040 | 4 | 67754089 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs144900788 | 1.000 | 0.040 | 4 | 67753900 | missense variant | G/A;T | snv | 1.3E-03 | 1 | ||
rs28933074 | 1.000 | 0.040 | 4 | 67740616 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs774317793 | 1.000 | 0.040 | 4 | 67754283 | missense variant | T/C | snv | 1.9E-04 | 2.1E-05 | 1 | |
rs1445182466 | 1.000 | 0.040 | 6 | 116809366 | missense variant | G/A | snv | 1 | |||
rs775830195 | 1.000 | 0.040 | 19 | 920520 | stop gained | C/A;T | snv | 4.2E-06 | 1 | ||
rs1359519711 | 1.000 | 0.040 | 16 | 30117672 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs753272921 | 1.000 | 0.040 | 2 | 42763741 | frameshift variant | G/- | delins | 4.0E-06 | 1 | ||
rs146544539 | 1.000 | 0.040 | 20 | 5302386 | missense variant | C/T | snv | 1.0E-04 | 2.8E-05 | 1 | |
rs774883653 | 1.000 | 0.040 | 20 | 5302542 | missense variant | A/G | snv | 4.8E-05 | 4.2E-05 | 1 | |
rs764654861 | 1.000 | 0.040 | 11 | 86951995 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs1472692670 | 1.000 | 0.040 | 4 | 69849453 | missense variant | T/A;C | snv | 4.0E-06 | 1 | ||
rs1396024828 | 1.000 | 0.040 | 12 | 57013615 | synonymous variant | C/A | snv | 1 | |||
rs1406099149 | 1.000 | 0.040 | 12 | 57013617 | synonymous variant | G/A | snv | 1 | |||
rs727505375 | 1.000 | 0.040 | 4 | 103658329 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs769742678 | 1.000 | 0.040 | 4 | 103719502 | synonymous variant | C/G | snv | 4.0E-06 | 1 | ||
rs104893847 | 1.000 | 0.040 | 4 | 67740508 | missense variant | G/A | snv | 1 |