Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs1289324472 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 21 | ||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
rs367543041 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 15 | ||
rs774005786 | 0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 | 8 | ||
rs45539432 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs71653619 | 1.000 | 0.040 | 1 | 7970934 | missense variant | G/A | snv | 7.9E-03 | 7.0E-03 | 4 | |
rs1426868527 | 1 | 20633841 | missense variant | G/A;T | snv | 3 | |||||
rs74315356 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs74315360 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 3 | |||
rs139548132 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 2 | |||
rs2421947 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 2 | |||
rs28940285 | 1.000 | 0.040 | 1 | 20645640 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs775809722 | 1.000 | 0.040 | 1 | 20633925 | missense variant | A/C;G | snv | 5.3E-06; 3.7E-05 | 2 | ||
rs1417802320 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 1 | ||||
rs45467995 | 1 | 20649062 | missense variant | G/A | snv | 1 | |||||
rs756677845 | 1 | 20638074 | frameshift variant | G/- | del | 1 | |||||
rs886039227 | 0.925 | 0.200 | 2 | 74378123 | missense variant | A/C | snv | 4 | |||
rs781442277 | 1.000 | 0.040 | 2 | 24793223 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 3 | ||
rs757199733 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |||
rs112176450 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 7 | |
rs387907571 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 6 | |
rs762472005 | 0.851 | 0.040 | 3 | 45722873 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 5 |