Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2606736 | 1.000 | 0.120 | 3 | 11358775 | intron variant | C/A;T | snv | 4 | |||
rs3923594 | 1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 | 2 | ||
rs750597831 | 1.000 | 0.120 | 11 | 108229230 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs753483597 | 1.000 | 0.120 | 6 | 162262675 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1048798213 | 1.000 | 0.120 | 5 | 112837872 | missense variant | C/G | snv | 1 | |||
rs1055259 | 1.000 | 0.120 | 1 | 109734239 | 3 prime UTR variant | T/C | snv | 0.12 | 1 | ||
rs12553173 | 1.000 | 0.120 | 9 | 35674104 | synonymous variant | T/C | snv | 0.14 | 0.20 | 1 | |
rs1397145500 | 1.000 | 0.120 | 17 | 64066782 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1442780982 | 1.000 | 0.120 | 5 | 112837977 | missense variant | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs147608663 | 1.000 | 0.120 | 5 | 97171338 | missense variant | A/G | snv | 2.8E-05; 8.1E-06 | 4.9E-05 | 1 | |
rs1642742 | 1.000 | 0.120 | 3 | 10150259 | 3 prime UTR variant | G/A | snv | 0.57 | 1 | ||
rs1642743 | 1.000 | 0.120 | 3 | 10148783 | intron variant | C/G;T | snv | 1 | |||
rs2279776 | 1.000 | 0.120 | 9 | 8389364 | synonymous variant | C/G;T | snv | 0.50; 4.0E-06 | 1 | ||
rs34048824 | 1.000 | 0.120 | 2 | 25312674 | intron variant | T/C | snv | 0.42 | 1 | ||
rs372947534 | 1.000 | 0.120 | 5 | 180626237 | missense variant | G/A | snv | 4.0E-05 | 6.3E-05 | 1 | |
rs587782274 | 1.000 | 0.120 | 11 | 108312465 | missense variant | A/C | snv | 1 | |||
rs706209 | 1.000 | 0.120 | 21 | 43053315 | 3 prime UTR variant | G/A | snv | 1 | |||
rs71682980 | 1.000 | 0.120 | 14 | 23855957 | intergenic variant | A/-;AA;AAA;AAAA;AAAAA;AAAAAAA | delins | 1 | |||
rs78683075 | 1.000 | 0.120 | 17 | 17222565 | missense variant | G/A | snv | 2.6E-04 | 2.4E-04 | 1 | |
rs8101626 | 1.000 | 0.120 | 19 | 10135353 | intron variant | G/A | snv | 0.64 | 1 | ||
rs864321679 | 1.000 | 0.120 | 3 | 52563364 | frameshift variant | CACTATCT/- | delins | 1 | |||
rs876658517 | 1.000 | 0.120 | 11 | 108327735 | missense variant | A/G;T | snv | 1 | |||
rs1267580705 | 0.925 | 0.240 | 2 | 46360680 | missense variant | G/A | snv | 4 | |||
rs1312268347 | 0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 | 4 | ||
rs1131690838 | 0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del | 3 |