Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6470292 | 1.000 | 0.040 | 8 | 124855801 | intron variant | A/G | snv | 0.17 | 2 | ||
rs683250 | 1.000 | 0.040 | 11 | 83565125 | intron variant | A/G;T | snv | 2 | |||
rs757281 | 1.000 | 0.040 | 12 | 47748635 | non coding transcript exon variant | C/A;G;T | snv | 2 | |||
rs8192506 | 1.000 | 0.040 | 2 | 119372265 | missense variant | A/C;G | snv | 4.0E-06; 2.5E-02 | 2 | ||
rs12454712 | 0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv | 9 | |||
rs10868235 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 6 | ||
rs1867283 | 0.925 | 0.080 | 9 | 84835851 | intron variant | G/A | snv | 0.39 | 5 | ||
rs10112596 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 3 | ||
rs10801153 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 3 | ||
rs1276624859 | 0.925 | 0.080 | 8 | 38057134 | missense variant | G/A | snv | 3 | |||
rs2111902 | 0.925 | 0.080 | 12 | 108884971 | intron variant | T/A;G | snv | 0.40 | 3 | ||
rs2910931 | 0.925 | 0.080 | 5 | 32394809 | intron variant | T/A | snv | 0.63 | 3 | ||
rs3741775 | 0.925 | 0.080 | 12 | 108889827 | intron variant | A/C;G | snv | 3 | |||
rs4623951 | 0.925 | 0.080 | 12 | 108878275 | intron variant | C/G;T | snv | 3 | |||
rs7528604 | 0.925 | 0.040 | 1 | 65941669 | intron variant | G/A | snv | 0.42 | 3 | ||
rs57875989 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 7 | |
rs9370822 | 0.882 | 0.120 | 6 | 15544505 | intron variant | A/C | snv | 0.36 | 7 | ||
rs2236418 | 0.882 | 0.120 | 10 | 26216567 | upstream gene variant | A/G | snv | 0.36 | 6 | ||
rs11111 | 0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 | 5 | ||
rs13440581 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 5 | |
rs2070587 | 0.882 | 0.080 | 12 | 108883967 | intron variant | T/G | snv | 0.32 | 5 | ||
rs2072115 | 0.882 | 0.080 | 12 | 47751585 | intron variant | A/C;G | snv | 5 | |||
rs228697 | 0.882 | 0.080 | 1 | 7827519 | missense variant | C/G | snv | 8.7E-02 | 7.3E-02 | 5 | |
rs3096140 | 0.882 | 0.080 | 5 | 37832731 | intron variant | G/A | snv | 0.69 | 5 | ||
rs75012854 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 5 |