Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs381575 | 1.000 | 0.080 | 5 | 53617061 | intron variant | A/C | snv | 0.42 | 1 | ||
rs4717901 | 1.000 | 0.080 | 7 | 74602653 | upstream gene variant | A/C | snv | 3.5E-02 | 1 | ||
rs5017567 | 1.000 | 0.080 | 1 | 161671506 | missense variant | A/C | snv | 6.4E-05 | 1.3E-04 | 1 | |
rs7300146 | 1.000 | 0.080 | 12 | 128888528 | intron variant | A/C | snv | 0.23 | 1 | ||
rs844644 | 1.000 | 0.080 | 1 | 173240356 | intergenic variant | A/C | snv | 0.62 | 1 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs12720356 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 12 | ||
rs1893592 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 12 | ||
rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
rs3751143 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 12 | ||
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 10 | ||
rs12531711 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 5 | |||
rs1382568 | 0.925 | 0.160 | 8 | 11493711 | intron variant | A/C;G | snv | 2 | |||
rs9275428 | 0.925 | 0.120 | 6 | 32703201 | downstream gene variant | A/C;G | snv | 2 | |||
rs10946940 | 1.000 | 0.080 | 6 | 27592808 | upstream gene variant | A/C;G | snv | 1 | |||
rs1152888 | 1.000 | 0.080 | 12 | 66211448 | missense variant | A/C;G | snv | 4.0E-06; 0.87 | 1 | ||
rs1194 | 1.000 | 0.080 | 6 | 35295778 | 3 prime UTR variant | A/C;G | snv | 0.78 | 1 | ||
rs2075596 | 1.000 | 0.080 | X | 154031941 | intron variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs11145763 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 14 | |||
rs396991 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 14 | ||
rs268134 | 0.925 | 0.120 | 2 | 65381229 | intron variant | A/C;G;T | snv | 3 | |||
rs3130342 | 1.000 | 0.080 | 6 | 32112369 | non coding transcript exon variant | A/C;G;T | snv | 2 | |||
rs601162 | 0.925 | 0.160 | 9 | 29632144 | upstream gene variant | A/C;G;T | snv | 2 |