Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs800292 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 33 | |
rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 18 | |
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs6677604 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 7 | ||
rs292001 | 0.807 | 0.320 | 1 | 22638465 | intron variant | G/A | snv | 0.54 | 6 | ||
rs10127939 | 0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 | 5 | ||
rs2298804 | 0.851 | 0.240 | 1 | 159304102 | missense variant | A/G;T | snv | 6.6E-03 | 4 | ||
rs11203368 | 0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 | 3 | ||
rs1635564 | 0.925 | 0.160 | 1 | 17357031 | intron variant | T/A;G | snv | 2 | |||
rs6697139 | 0.925 | 0.160 | 1 | 161690906 | intergenic variant | G/A;T | snv | 2 | |||
rs11889341 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 12 | ||
rs4664308 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 4 | ||
rs329498 | 0.882 | 0.200 | 2 | 64100410 | synonymous variant | G/A;C;T | snv | 8.0E-06; 0.34 | 3 | ||
rs434082 | 0.925 | 0.160 | 2 | 40257934 | intron variant | C/T | snv | 0.14 | 3 | ||
rs4984 | 0.925 | 0.160 | 2 | 70673271 | synonymous variant | G/A | snv | 0.12 | 0.15 | 3 | |
rs11893826 | 0.925 | 0.160 | 2 | 40337507 | intron variant | G/A | snv | 0.27 | 2 | ||
rs3792192 | 0.925 | 0.160 | 2 | 160030364 | intron variant | G/A | snv | 0.35 | 2 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs352139 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 18 | |
rs1391441 | 0.763 | 0.240 | 4 | 105207603 | intron variant | G/A | snv | 0.70 | 11 | ||
rs1364989 | 0.925 | 0.160 | 4 | 54145602 | intron variant | T/C | snv | 0.73 | 2 | ||
rs7692514 | 0.925 | 0.160 | 4 | 65276878 | intergenic variant | G/A;C | snv | 2 |