Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs780517804 | 1 | 23798701 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 1 | |||
rs794727505 | 9 | 36246181 | missense variant | A/G | snv | 8.0E-06 | 1 | ||||
rs9574547 | 13 | 80057282 | intron variant | C/A | snv | 0.17 | 1 | ||||
rs886043118 | 0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins | 5 | |||
rs3814055 | 0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 | 4 | ||
rs1453542 | 0.925 | 0.040 | 11 | 59457412 | missense variant | G/A;C | snv | 7.2E-05; 0.26 | 3 | ||
rs1523127 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 3 | ||
rs5925720 | 0.925 | 0.040 | X | 23001200 | missense variant | G/T | snv | 0.15 | 9.4E-02 | 3 | |
rs76600635 | 0.925 | 0.040 | 4 | 38798702 | missense variant | A/G | snv | 8.2E-03 | 2.8E-03 | 3 | |
rs7729269 | 0.925 | 0.040 | 5 | 113384697 | intron variant | T/C | snv | 0.17 | 3 | ||
rs879255268 | 0.925 | 0.040 | 20 | 37403347 | missense variant | G/A | snv | 3 | |||
rs10759637 | 1.000 | 0.040 | 9 | 113262744 | 3 prime UTR variant | A/C | snv | 0.47 | 2 | ||
rs121918552 | 1.000 | 0.040 | 7 | 25123996 | missense variant | C/T | snv | 2 | |||
rs160441 | 1.000 | 0.040 | 8 | 89644760 | intron variant | T/C | snv | 0.55 | 2 | ||
rs218916 | 1.000 | 0.040 | 8 | 89688709 | intron variant | C/T | snv | 0.67 | 2 | ||
rs527297896 | 1.000 | 0.040 | 9 | 132988461 | missense variant | G/T | snv | 4.9E-04 | 8.4E-05 | 2 | |
rs61749397 | 0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 | 9 | ||
rs121908065 | 0.851 | 0.080 | 17 | 4933119 | missense variant | C/T | snv | 5 | |||
rs146249964 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 5 | |
rs5030764 | 0.882 | 0.080 | 3 | 129061921 | missense variant | A/G | snv | 4.8E-04 | 7.4E-04 | 5 | |
rs61749384 | 0.882 | 0.080 | 12 | 6019502 | missense variant | G/A | snv | 5 | |||
rs121909752 | 0.925 | 0.080 | 22 | 19723980 | stop gained | G/A;C | snv | 7.5E-06 | 4 | ||
rs766503255 | 0.882 | 0.080 | 17 | 44372408 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
rs121908064 | 1.000 | 0.080 | 17 | 4933367 | missense variant | A/G | snv | 3 | |||
rs4737420 | 0.925 | 0.080 | 8 | 55895622 | non coding transcript exon variant | T/C | snv | 0.38 | 3 |