Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs7538876 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 6 | ||
rs801114 | 0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 | 5 | ||
rs2303425 | 0.790 | 0.120 | 2 | 47403074 | 5 prime UTR variant | T/C | snv | 0.10 | 8 | ||
rs3769823 | 0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 | 6 | |
rs13014235 | 0.851 | 0.040 | 2 | 201350769 | missense variant | C/G | snv | 0.62 | 0.63 | 5 | |
rs700635 | 0.925 | 0.040 | 2 | 201288502 | 3 prime UTR variant | C/A | snv | 0.72 | 3 | ||
rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 23 | |||
rs869025212 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 6 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs142310826 | 1.000 | 0.040 | 4 | 178481702 | intergenic variant | T/A | snv | 1.7E-02 | 3 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs16891982 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 13 | ||
rs137853214 | 0.925 | 0.040 | 5 | 87349304 | missense variant | G/T | snv | 2 | |||
rs137853215 | 0.925 | 0.040 | 5 | 87349309 | missense variant | A/G | snv | 2 | |||
rs137853216 | 0.925 | 0.040 | 5 | 87349312 | missense variant | A/G | snv | 2 | |||
rs893729101 | 1.000 | 0.040 | 5 | 1341708 | missense variant | T/C | snv | 2.1E-05 | 2 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
rs12203592 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 38 | ||
rs12210050 | 0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 | 8 | ||
rs12202284 | 0.925 | 0.080 | 6 | 471136 | intron variant | C/A;T | snv | 3 |