Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs148789453 | 0.882 | 0.120 | 4 | 1001802 | missense variant | T/A;G | snv | 2.2E-05; 4.4E-06 | 4 | ||
rs2841307 | 6 | 100308811 | intergenic variant | C/T | snv | 0.20 | 2 | ||||
rs2044117 | 13 | 101055958 | intron variant | G/A | snv | 0.19 | 2 | ||||
rs736707 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 6 | ||
rs6484218 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 5 | ||
rs7341475 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 6 | ||
rs4996815 | 13 | 105999312 | intron variant | G/T | snv | 0.61 | 2 | ||||
rs2018368 | 11 | 10718819 | intergenic variant | C/G | snv | 0.59 | 2 | ||||
rs17069122 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 2 | ||||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs6318 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 42 | |||
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 | |
rs3135932 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 23 | |
rs2229113 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 10 | |
rs11789399 | 0.882 | 0.040 | 9 | 118597008 | intergenic variant | G/A;C | snv | 5 | |||
rs11789407 | 9 | 118597268 | intergenic variant | C/A | snv | 0.44 | 2 | ||||
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs12305135 | 1.000 | 0.080 | 12 | 130150660 | non coding transcript exon variant | T/C | snv | 6.8E-02 | 2 | ||
rs10496702 | 2 | 133247997 | intron variant | G/A | snv | 0.18 | 2 |