Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1535001 | 0.925 | 0.080 | 6 | 34959503 | intron variant | A/G | snv | 0.47 | 2 | ||
rs1887428 | 1.000 | 0.080 | 9 | 4984530 | 5 prime UTR variant | G/C;T | snv | 2 | |||
rs200395694 | 1.000 | 0.080 | 1 | 156480799 | intron variant | G/A;C;T | snv | 2.7E-05; 1.2E-04; 1.6E-03 | 2 | ||
rs200991 | 1.000 | 0.080 | 6 | 27847716 | intron variant | C/A | snv | 0.21 | 2 | ||
rs2176082 | 0.925 | 0.080 | 3 | 58345459 | intron variant | G/A | snv | 0.36 | 2 | ||
rs2272733 | 0.925 | 0.080 | 8 | 42300384 | intron variant | T/C | snv | 0.71 | 2 | ||
rs2275247 | 0.925 | 0.080 | 1 | 35442850 | intron variant | T/C | snv | 0.26 | 2 | ||
rs2286672 | 1.000 | 0.080 | 17 | 4809322 | missense variant | C/T | snv | 0.15 | 8.1E-02 | 2 | |
rs2304206 | 0.925 | 0.080 | 19 | 49665614 | 5 prime UTR variant | G/A | snv | 0.37 | 2 | ||
rs267607656 | 0.925 | 0.080 | 12 | 52675439 | inframe deletion | GTAGCTGCTACCTCCGGAGCC/- | delins | 2 | |||
rs3117426 | 0.925 | 0.080 | 6 | 29304235 | intron variant | C/T | snv | 0.21 | 2 | ||
rs3130342 | 1.000 | 0.080 | 6 | 32112369 | non coding transcript exon variant | A/C;G;T | snv | 2 | |||
rs3136516 | 1.000 | 0.080 | 11 | 46739206 | intron variant | G/A | snv | 0.38 | 2 | ||
rs3219018 | 1.000 | 0.080 | 1 | 161662856 | upstream gene variant | G/C | snv | 2 | |||
rs35979293 | 0.925 | 0.080 | 16 | 28933379 | synonymous variant | G/A;T | snv | 3.2E-05; 0.30 | 2 | ||
rs3811021 | 1.000 | 0.080 | 1 | 113814041 | 3 prime UTR variant | A/G | snv | 0.15 | 2 | ||
rs3827644 | 0.925 | 0.080 | 6 | 106237320 | intron variant | G/C | snv | 0.15 | 2 | ||
rs4850410 | 1.000 | 0.080 | 2 | 197055445 | intron variant | C/G;T | snv | 2 | |||
rs5029941 | 1.000 | 0.080 | 6 | 137874923 | missense variant | C/T | snv | 1.2E-03 | 5.6E-03 | 2 | |
rs55916807 | 0.925 | 0.080 | 17 | 16948968 | missense variant | C/T | snv | 2.0E-03 | 2.6E-03 | 2 | |
rs592229 | 1.000 | 0.080 | 6 | 31962664 | intron variant | G/A;C;T | snv | 4.0E-06; 4.5E-05; 0.61 | 2 | ||
rs6874202 | 1.000 | 0.080 | 5 | 156964617 | upstream gene variant | T/C | snv | 0.57 | 2 | ||
rs6983130 | 1.000 | 0.080 | 8 | 55880680 | intron variant | A/G | snv | 0.18 | 2 | ||
rs702814 | 1.000 | 0.080 | 7 | 28133113 | intron variant | C/T | snv | 0.37 | 2 | ||
rs702966 | 0.925 | 0.080 | 11 | 611919 | 3 prime UTR variant | C/G | snv | 0.33 | 2 |