Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs121434491 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 15 | |||
rs3825172 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 14 | |||
rs104893768 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 11 | |||
rs137853006 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 11 | |||
rs1282382243 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 8 | |||
rs768435443 | 0.807 | 0.080 | 1 | 94055128 | missense variant | A/G | snv | 4.0E-06 | 8 | ||
rs11196205 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 7 | |||
rs1557024919 | 0.925 | 0.240 | X | 53634235 | splice donor variant | C/G | snv | 7 | |||
rs771676129 | 0.827 | 0.080 | 7 | 80671082 | synonymous variant | C/T | snv | 4.0E-06 | 7 | ||
rs999947969 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 7 | |||
rs62638634 | 0.925 | 0.080 | X | 38322921 | missense variant | C/A | snv | 4 | |||
rs763544450 | 1.000 | 0.080 | 21 | 38445560 | missense variant | T/G | snv | 4.0E-06 | 4 | ||
rs137853298 | 0.925 | 0.080 | 22 | 32859351 | missense variant | A/T | snv | 3 | |||
rs281874657 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 3 | |||
rs1057518955 | 1.000 | 0.120 | 1 | 94019602 | frameshift variant | -/C | delins | 4.1E-06 | 2 | ||
rs281874727 | 1.000 | 0.160 | X | 108681837 | stop gained | C/T | snv | 2 | |||
rs2853502 | 1.000 | 0.200 | MT | 13276 | missense variant | A/C;G;T | snv | 2 |