Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1445287184 | 1.000 | 0.120 | 12 | 80670365 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 | 7 | |
rs6801957 | 1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 | 7 | ||
rs2053044 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 5 | ||
rs10483639 | 1.000 | 0.040 | 14 | 54839739 | downstream gene variant | G/C | snv | 0.26 | 3 | ||
rs1051660 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 3 | ||
rs11466112 | 1.000 | 0.080 | 1 | 115286135 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 3 | |
rs16868943 | 1.000 | 0.040 | 6 | 33179950 | intron variant | G/A | snv | 2.9E-02 | 3 | ||
rs2233409 | 1.000 | 0.080 | 14 | 35405064 | upstream gene variant | G/A | snv | 0.19 | 3 | ||
rs6334 | 1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 | 3 | ||
rs104894379 | 1.000 | 0.120 | 12 | 114398675 | stop gained | G/A;C;T | snv | 2 | |||
rs1050565 | 1.000 | 0.080 | 17 | 30249058 | missense variant | T/C | snv | 0.30 | 0.29 | 2 | |
rs1288779666 | 1.000 | 0.120 | 22 | 42128944 | missense variant | C/G | snv | 2 | |||
rs13093031 | 1.000 | 0.120 | 3 | 88809891 | intergenic variant | A/G | snv | 0.17 | 2 | ||
rs13361160 | 1.000 | 0.040 | 5 | 10169711 | downstream gene variant | T/C | snv | 0.34 | 2 | ||
rs1972597 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 2 | ||
rs2070995 | 1.000 | 0.040 | 21 | 37714662 | synonymous variant | T/C | snv | 0.80 | 0.85 | 2 | |
rs2562456 | 1.000 | 0.040 | 19 | 21483408 | non coding transcript exon variant | C/T | snv | 0.77 | 2 | ||
rs3862188 | 1.000 | 0.040 | 1 | 247702471 | intron variant | T/C | snv | 0.44 | 2 | ||
rs563649 | 1.000 | 0.040 | 6 | 154086832 | 5 prime UTR variant | C/T | snv | 9.8E-02 | 2 | ||
rs6961071 | 1.000 | 0.120 | 7 | 156182007 | downstream gene variant | A/G;T | snv | 0.47 | 2 | ||
rs748653984 | 1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs749415280 | 1.000 | 0.120 | 4 | 69096638 | missense variant | A/G | snv | 2 | |||
rs76060075 | 1.000 | 0.120 | 22 | 42129185 | missense variant | C/G | snv | 2 | |||
rs773030005 | 1.000 | 0.040 | 4 | 69107204 | synonymous variant | A/C;G | snv | 4.0E-06; 6.8E-05 | 2 | ||
rs778056858 | 1.000 | 0.080 | 1 | 156866944 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 2 |