Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs145171343 | 17 | 35559745 | upstream gene variant | C/T | snv | 9.5E-03 | 2 | ||||
rs6136489 | 20 | 1943088 | upstream gene variant | T/G | snv | 0.46 | 2 | ||||
rs156356 | 20 | 1838634 | TF binding site variant | T/C | snv | 0.61 | 2 | ||||
rs1059196 | 22 | 19724571 | 3 prime UTR variant | C/T | snv | 0.42 | 3 | ||||
rs11553699 | 12 | 121779004 | 3 prime UTR variant | A/G | snv | 9.4E-02 | 6 | ||||
rs964184 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 47 | ||
rs56043070 | 1 | 247556467 | splice donor variant | G/A;T | snv | 5.2E-02; 4.1E-06 | 4 | ||||
rs150813342 | 9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 | 9 | |||
rs553749201 | 17 | 4933900 | synonymous variant | C/A | snv | 3 | |||||
rs114694170 | 1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 | 5 | ||
rs17572109 | 2 | 218229211 | non coding transcript exon variant | G/A;T | snv | 3 | |||||
rs59508494 | 19 | 16100820 | non coding transcript exon variant | A/G | snv | 5.1E-02 | 2 | ||||
rs1613662 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 8 | |
rs41303899 | 20 | 59023753 | missense variant | G/A | snv | 8.7E-04 | 9.0E-04 | 3 | |||
rs9473147 | 6 | 47641856 | regulatory region variant | A/G | snv | 0.27 | 2 | ||||
rs11731274 | 4 | 6889728 | intergenic variant | T/A;G | snv | 2 | |||||
rs74847330 | 2 | 143074030 | intergenic variant | A/G | snv | 8.8E-02 | 4 | ||||
rs10886430 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 3 | ||||
rs11030122 | 11 | 3865946 | intron variant | C/G | snv | 0.27 | 2 | ||||
rs11071720 | 15 | 63049797 | intron variant | T/C;G | snv | 3 | |||||
rs11082304 | 18 | 23141009 | intron variant | G/C;T | snv | 6 | |||||
rs11121012 | 1 | 7734229 | intron variant | A/G | snv | 0.62 | 2 | ||||
rs117672662 | 14 | 68958750 | intron variant | T/C | snv | 7.4E-03 | 3 | ||||
rs12041331 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 11 | ||
rs12445050 | 16 | 81837364 | intron variant | C/T | snv | 9.6E-02 | 3 |