Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2259820 | 0.882 | 0.160 | 12 | 120997539 | synonymous variant | C/T | snv | 0.34 | 0.26 | 6 | |
rs371282890 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 6 | |
rs773891125 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 6 | |||
rs6782181 | 0.851 | 0.160 | 3 | 138386212 | intron variant | G/A;C | snv | 6 | |||
rs1558861 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 5 | |||||
rs5072 | 11 | 116836867 | intron variant | A/G | snv | 0.89 | 5 | ||||
rs121918394 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 5 | ||
rs140808909 | 0.851 | 0.120 | 19 | 44909080 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 | 5 | |
rs267606664 | 0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 | 5 | ||
rs3828599 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 5 | ||
rs2569512 | 0.925 | 0.080 | 19 | 10679486 | intron variant | T/C | snv | 0.76 | 5 | ||
rs11202592 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 5 | |
rs633389 | 1.000 | 0.040 | 11 | 116796621 | upstream gene variant | C/T | snv | 0.13 | 4 | ||
rs199768005 | 0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 | 4 | |
rs2250656 | 0.882 | 0.160 | 19 | 6718523 | intron variant | T/C | snv | 0.25 | 4 | ||
rs11773845 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 4 | ||
rs11635252 | 0.925 | 0.080 | 15 | 90528542 | upstream gene variant | T/C | snv | 0.88 | 4 | ||
rs10889332 | 1.000 | 0.120 | 1 | 62485187 | 3 prime UTR variant | C/T | snv | 0.39 | 4 | ||
rs4846913 | 1.000 | 0.120 | 1 | 230158968 | intron variant | C/A;T | snv | 4 | |||
rs587777636 | 0.882 | 0.080 | 8 | 143213935 | missense variant | G/A;C | snv | 6.5E-06 | 4 | ||
rs11206517 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 4 | |||
rs2297322 | 1.000 | 0.040 | 13 | 98723927 | missense variant | C/G;T | snv | 0.22 | 4 | ||
rs201079485 | 0.925 | 0.080 | 11 | 116790940 | stop gained | G/A;T | snv | 8.0E-05; 4.0E-06 | 4 | ||
rs9644568 | 8 | 20071071 | intergenic variant | G/A | snv | 0.11 | 3 | ||||
rs2074379 | 1.000 | 4 | 112431743 | missense variant | G/A | snv | 0.62 | 0.65 | 3 |