Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs964184 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 35 | ||
rs429358 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 26 | |
rs7412 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 20 | |
rs629301 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 19 | ||
rs635634 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 17 | |||
rs2519093 | 0.882 | 0.200 | 9 | 133266456 | intron variant | T/C | snv | 14 | |||
rs516246 | 0.925 | 0.160 | 19 | 48702915 | intron variant | C/T | snv | 0.38 | 0.45 | 10 | |
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 10 | ||
rs646776 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 10 | ||
rs77542162 | 1.000 | 0.040 | 17 | 69085137 | missense variant | A/G | snv | 9.3E-03 | 1.0E-02 | 10 | |
rs12740374 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 9 | ||
rs550057 | 0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv | 7 | |||
rs492602 | 0.925 | 0.120 | 19 | 48703160 | synonymous variant | A/G | snv | 0.38 | 0.45 | 6 | |
rs507666 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 6 | |||
rs77303550 | 16 | 72045758 | intron variant | C/T | snv | 0.19 | 6 | ||||
rs1801689 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 5 | ||||
rs438811 | 19 | 44913484 | non coding transcript exon variant | C/T | snv | 0.29 | 5 | ||||
rs4665710 | 2 | 20998163 | downstream gene variant | A/C | snv | 0.76 | 5 | ||||
rs9411378 | 9 | 133270015 | intron variant | A/C;T | snv | 5 | |||||
rs1065853 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 4 | |||||
rs17580 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 4 | |
rs6982502 | 0.882 | 0.080 | 8 | 125467120 | intron variant | C/T | snv | 0.62 | 4 | ||
rs191448950 | 1 | 55119171 | intron variant | G/A | snv | 6.4E-03 | 3 |