Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs235764 | 0.882 | 0.040 | 20 | 6773599 | intron variant | G/A | snv | 0.31 | 3 | ||
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs3217992 | 0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 | 22 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs137853011 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 16 | |
rs121908698 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 7 | ||
rs730881701 | 0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 | 6 | |
rs200917541 | 0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv | 5 | |||
rs560596101 | 0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 | 5 | ||
rs587781705 | 0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv | 5 | |||
rs587782401 | 0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 | 5 | ||
rs17883862 | 0.882 | 0.080 | 22 | 28734468 | missense variant | G/A;C;T | snv | 9.1E-04; 1.2E-05 | 3 | ||
rs137853008 | 1.000 | 0.040 | 22 | 28734673 | missense variant | C/A | snv | 1 | |||
rs11866002 | 0.851 | 0.120 | 16 | 58553833 | synonymous variant | C/T | snv | 0.35 | 0.39 | 4 | |
rs1061970 | 0.882 | 0.040 | 17 | 50184491 | 3 prime UTR variant | A/G | snv | 0.13 | 3 | ||
rs2075559 | 0.882 | 0.040 | 17 | 50189930 | intron variant | G/A;C;T | snv | 0.52; 4.0E-06 | 3 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs886041906 | 0.882 | 0.200 | 2 | 203868002 | stop gained | G/A | snv | 6 | |||
rs1233296947 | 0.851 | 0.080 | 3 | 41225746 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs10019009 | 0.851 | 0.080 | 4 | 87661983 | missense variant | A/G;T | snv | 4.0E-06; 0.29 | 4 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs2070699 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 14 |