Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11531577 | 1.000 | 0.040 | 7 | 100180604 | missense variant | G/T | snv | 0.18 | 0.17 | 2 | |
rs57989773 | 1.000 | 0.080 | 6 | 100181202 | downstream gene variant | T/C | snv | 0.23 | 1 | ||
rs1324694 | 0.925 | 0.120 | 10 | 100186688 | upstream gene variant | C/T | snv | 7.8E-02 | 1 | ||
rs1161498711 | 7 | 100198492 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs751680143 | 7 | 100198542 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 1 | |||
rs1644731 | 0.925 | 0.040 | 19 | 10021323 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 2 | ||
rs1727130 | 1.000 | 0.040 | 7 | 100213841 | intron variant | C/G;T | snv | 0.67; 1.6E-05 | 1 | ||
rs1052482 | 1.000 | 0.040 | 7 | 100214213 | 3 prime UTR variant | A/T | snv | 0.69 | 1 | ||
rs185492864 | 0.925 | 0.120 | 1 | 100214855 | missense variant | G/A;C | snv | 5.1E-04; 8.0E-06 | 2 | ||
rs121964999 | 0.882 | 0.120 | 1 | 100214929 | missense variant | A/C | snv | 1.1E-04 | 1.0E-04 | 1 | |
rs1160542 | 1.000 | 0.120 | 2 | 100215693 | intron variant | G/A | snv | 0.45 | 1 | ||
rs2230804 | 10 | 100218126 | missense variant | C/T | snv | 0.47 | 0.57 | 1 | |||
rs10865035 | 1.000 | 0.080 | 2 | 100219272 | intron variant | A/G | snv | 0.42 | 1 | ||
rs121965033 | 0.925 | 0.120 | 4 | 1002333 | missense variant | T/C;G | snv | 4.0E-06 | 1 | ||
rs6831280 | 0.925 | 0.080 | 4 | 1002377 | missense variant | G/A;C | snv | 0.17 | 3 | ||
rs4764971 | 1.000 | 0.040 | 12 | 100238019 | 3 prime UTR variant | A/G | snv | 0.15 | 1 | ||
rs3131837 | 0.882 | 0.080 | 1 | 100252204 | non coding transcript exon variant | C/G | snv | 0.80 | 3 | ||
rs774738181 | 1.000 | 0.080 | 13 | 100262814 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 1 | |
rs12784396 | 0.925 | 0.040 | 10 | 100267650 | 5 prime UTR variant | C/A;T | snv | 2 | |||
rs11644461 | 1.000 | 0.080 | 16 | 10027033 | intron variant | T/C | snv | 0.34 | 1 | ||
rs750840362 | 1.000 | 0.080 | 13 | 100273236 | missense variant | C/G | snv | 6.8E-05 | 4.9E-05 | 1 | |
rs121965019 | 0.851 | 0.120 | 4 | 1002747 | stop gained | G/A | snv | 5.9E-04 | 8.4E-04 | 4 | |
rs991612107 | 0.882 | 0.120 | 4 | 1002748 | stop gained | G/A | snv | 4 | |||
rs386834266 | 1.000 | 0.120 | 14 | 100277470 | missense variant | C/G | snv | 2 | |||
rs150577396 | 1.000 | 0.080 | 8 | 100287609 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 1 |