Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11575937 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 14 | |||
rs142433332 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 14 | ||
rs1553201258 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 14 | |||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 11 | |
rs1557551678 | 0.882 | 0.160 | 1 | 42738421 | missense variant | C/A | snv | 9 | |||
rs880315 | 0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 | 9 | ||
rs11206510 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 8 | |||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 7 | |
rs17030613 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 7 | ||||
rs17367504 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 7 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 6 | |
rs2131925 | 1 | 62560271 | intron variant | G/T | snv | 0.57 | 5 | ||||
rs2274700 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 5 | ||
rs3790604 | 1 | 112504257 | intron variant | C/A | snv | 7.8E-02 | 5 | ||||
rs10776752 | 1 | 112501706 | intron variant | G/T | snv | 8.8E-02 | 4 | ||||
rs12129649 | 1 | 112688881 | 5 prime UTR variant | G/T | snv | 6.6E-02 | 4 | ||||
rs2004776 | 1 | 230712956 | intron variant | C/G;T | snv | 4 | |||||
rs2144300 | 0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 | 4 | ||
rs2932538 | 1 | 112673921 | intron variant | A/C;G | snv | 4 | |||||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 4 | |
rs10745332 | 1 | 112646431 | intron variant | G/A | snv | 0.77 | 3 | ||||
rs12046278 | 1 | 10739520 | intron variant | T/C | snv | 0.36 | 3 | ||||
rs12063100 | 1 | 188865413 | downstream gene variant | G/A;T | snv | 3 | |||||
rs17111503 | 0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 | 3 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 3 |