Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs374880482 | 0.925 | 0.040 | X | 85963748 | missense variant | T/C | snv | 3.3E-05 | 2.8E-05 | 2 | |
rs3827336 | 1.000 | 0.040 | 22 | 32625012 | intron variant | C/G | snv | 9.1E-02 | 1 | ||
rs5998557 | 1.000 | 0.040 | 22 | 32611052 | intron variant | G/A;C | snv | 1 | |||
rs1362858 | 0.925 | 0.040 | 18 | 35406636 | upstream gene variant | C/A | snv | 0.71 | 2 | ||
rs11868035 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 14 | |
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs2066842 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 15 | ||
rs188286943 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 9 | |||
rs1414323823 | 0.851 | 0.160 | 15 | 74722772 | frameshift variant | -/TCTCGGT | ins | 4.0E-06 | 4 | ||
rs41549716 | 0.882 | 0.200 | 15 | 89321842 | missense variant | T/C | snv | 6.6E-03 | 7.0E-03 | 4 | |
rs9652490 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 4 | ||
rs9323124 | 0.925 | 0.040 | 14 | 46996974 | non coding transcript exon variant | T/A | snv | 0.23 | 2 | ||
rs1320254777 | 1.000 | 0.040 | 14 | 54902565 | missense variant | G/C | snv | 7.0E-06 | 1 | ||
rs7669 | 0.925 | 0.040 | 13 | 27435714 | missense variant | G/A;C | snv | 0.15 | 0.15 | 2 | |
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs34778348 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 15 | |
rs33949390 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 9 | ||
rs34015634 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 8 | |
rs34995376 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 7 | ||
rs34410987 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 3 | |
rs66737902 | 0.925 | 0.040 | 12 | 40367861 | 3 prime UTR variant | T/C | snv | 0.14 | 2 | ||
rs1366901063 | 0.925 | 0.040 | 11 | 123060725 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs753359396 | 1.000 | 0.040 | 11 | 2168093 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
rs10746953 | 0.925 | 0.040 | 9 | 74302924 | regulatory region variant | C/T | snv | 0.44 | 2 |