Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs736707 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 6 | ||
rs1060499679 | 0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins | 5 | |||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs2279709 | 0.882 | 0.120 | 8 | 20178722 | intron variant | T/G | snv | 0.51 | 5 | ||
rs279871 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 5 | ||
rs40184 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 5 | ||
rs945032 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 5 | ||
rs9804190 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 5 | ||
rs104894127 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 4 | |||
rs1059004 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 4 | ||
rs1133503 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 4 | |||
rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
rs1554121671 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 4 | ||||
rs1555103646 | 1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv | 4 | |||
rs2144025 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 4 | |||
rs279826 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 4 | ||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs9983925 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 4 | ||||
rs137853208 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 3 | |||
rs2074898 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 3 | |||
rs2400707 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs3915512 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 3 | |||
rs10509125 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 2 | ||||
rs121964849 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 2 | |||
rs2049161 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 2 |