Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2900174 | 1.000 | 0.120 | 12 | 11394598 | intron variant | A/G | snv | 0.12 | 1 | ||
rs10983614 | 1.000 | 0.120 | 9 | 117306874 | intron variant | T/A;C | snv | 1 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs12413624 | 0.851 | 0.120 | 10 | 118519432 | intergenic variant | T/A | snv | 0.34 | 5 | ||
rs12939944 | 0.925 | 0.120 | 17 | 12056502 | intron variant | C/T | snv | 0.45 | 2 | ||
rs137853079 | 1.000 | 0.120 | 19 | 1207021 | stop gained | C/A;G;T | snv | 1.6E-05 | 2 | ||
rs7310409 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 7 | |||
rs1169296 | 1.000 | 0.120 | 12 | 120990604 | intron variant | A/G | snv | 0.26 | 1 | ||
rs1182933 | 1.000 | 0.120 | 12 | 121016819 | upstream gene variant | C/T | snv | 0.26 | 3 | ||
rs397518442 | 1.000 | 0.120 | 19 | 1220630 | frameshift variant | C/- | delins | 1 | |||
rs730881976 | 0.882 | 0.240 | 19 | 1220702 | stop gained | C/A;G | snv | 4 | |||
rs1129055 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 15 | |
rs17281995 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 11 | |||
rs397518443 | 0.925 | 0.200 | 19 | 1222998 | frameshift variant | AA/-;A | delins | 2 | |||
rs375328708 | 1.000 | 0.120 | 19 | 1226602 | synonymous variant | C/G;T | snv | 6.7E-05 | 6.3E-05 | 1 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs4285214 | 1.000 | 0.120 | 5 | 124688588 | intron variant | T/G | snv | 0.55 | 1 | ||
rs2980874 | 0.925 | 0.120 | 8 | 125432546 | intron variant | G/A | snv | 0.30 | 2 | ||
rs2235108 | 0.925 | 0.120 | 8 | 125436547 | 3 prime UTR variant | G/A | snv | 0.25 | 3 | ||
rs2980879 | 0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 | 3 | ||
rs752967378 | 0.882 | 0.160 | 3 | 12618580 | missense variant | G/A;C | snv | 4.0E-06 | 3 | ||
rs2066827 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 21 | ||
rs10094872 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 4 |