Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs974389711 | 1.000 | 0.040 | 11 | 116836210 | synonymous variant | C/T | snv | 1 | |||
rs1444332461 | 1.000 | 0.040 | 22 | 50627185 | missense variant | A/G | snv | 4.1E-06 | 1 | ||
rs1251035592 | 1.000 | 0.040 | 7 | 99664039 | missense variant | T/C | snv | 4.2E-06 | 1 | ||
rs886916693 | 1.000 | 0.040 | 2 | 8806360 | missense variant | T/C | snv | 4.1E-06 | 1 | ||
rs3829462 | 1.000 | 0.040 | 15 | 58560880 | missense variant | C/A;T | snv | 0.97 | 1 | ||
rs1341991169 | 1.000 | 0.040 | 8 | 19939444 | missense variant | G/A | snv | 1 | |||
rs121918392 | 0.925 | 0.040 | 19 | 44907777 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 | 2 | |
rs8450 | 1.000 | 0.040 | 1 | 153947810 | 3 prime UTR variant | G/A | snv | 0.27 | 2 | ||
rs632793 | 0.882 | 0.120 | 1 | 11850620 | upstream gene variant | A/G | snv | 0.45 | 3 | ||
rs920435389 | 1.000 | 0.040 | 5 | 177091064 | missense variant | G/C | snv | 3 | |||
rs6078 | 0.882 | 0.120 | 15 | 58541794 | missense variant | G/A;T | snv | 7.1E-02; 8.0E-06 | 3 | ||
rs1941404 | 0.882 | 0.120 | 11 | 114298316 | non coding transcript exon variant | A/G | snv | 0.59 | 3 | ||
rs4713518 | 0.925 | 0.160 | 6 | 32289560 | intron variant | A/G;T | snv | 3 | |||
rs2222823 | 0.925 | 0.080 | 3 | 123885940 | upstream gene variant | T/A | snv | 0.14 | 4 | ||
rs198388 | 0.851 | 0.160 | 1 | 11857283 | downstream gene variant | C/G;T | snv | 4 | |||
rs140808909 | 0.851 | 0.120 | 19 | 44909080 | missense variant | G/A | snv | 2.0E-04 | 5.6E-05 | 5 | |
rs10748835 | 0.827 | 0.160 | 10 | 102900499 | non coding transcript exon variant | G/A | snv | 0.41 | 5 | ||
rs2302685 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 5 | |
rs150599989 | 0.827 | 0.320 | 19 | 47341767 | missense variant | G/A;C;T | snv | 4.0E-06; 9.6E-05 | 5 | ||
rs121964971 | 0.851 | 0.160 | 21 | 43058215 | missense variant | G/A | snv | 1.2E-05 | 5 | ||
rs2811712 | 0.882 | 0.080 | 9 | 21998036 | intron variant | G/A | snv | 0.85 | 5 | ||
rs498005 | 0.851 | 0.160 | 15 | 73327969 | intron variant | C/T | snv | 0.48 | 5 | ||
rs879254840 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 5 | |||
rs7744 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 5 | ||
rs200960801 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 6 |