Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799937 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 3 | |
rs6508 | 0.882 | 0.160 | 11 | 32438918 | non coding transcript exon variant | G/A | snv | 8.3E-02 | 0.16 | 3 | |
rs2301254 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 3 | ||
rs121908415 | 0.925 | 0.080 | 19 | 38710286 | missense variant | A/G | snv | 7.0E-06 | 2 | ||
rs1241977606 | 0.925 | 0.080 | 4 | 73416326 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs1003629254 | 0.925 | 0.080 | 2 | 88595599 | missense variant | C/G;T | snv | 2 | |||
rs267606879 | 0.925 | 0.080 | 14 | 104703428 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs754313620 | 0.925 | 0.080 | 14 | 104714452 | missense variant | T/C;G | snv | 7.0E-06 | 2 | ||
rs112545413 | 0.925 | 0.080 | 19 | 38717102 | missense variant | G/A | snv | 1.2E-02 | 9.6E-03 | 2 | |
rs121908416 | 0.925 | 0.080 | 19 | 38710299 | missense variant | C/T | snv | 2 | |||
rs121908417 | 0.925 | 0.080 | 19 | 38710307 | missense variant | T/C | snv | 2 | |||
rs1131692055 | 0.925 | 0.080 | 10 | 100781314 | missense variant | G/A | snv | 2 | |||
rs1422329310 | 0.925 | 0.280 | 10 | 94265844 | synonymous variant | G/A | snv | 4.0E-06 | 2 | ||
rs121434390 | 0.925 | 0.080 | 11 | 101504634 | missense variant | G/T | snv | 2 | |||
rs121434395 | 0.925 | 0.080 | 11 | 101453062 | missense variant | C/T | snv | 2 | |||
rs3802829 | 0.925 | 0.080 | 11 | 101583461 | missense variant | G/A | snv | 8.2E-02 | 7.0E-02 | 2 | |
rs2234591 | 0.925 | 0.080 | 11 | 32399873 | intron variant | T/C | snv | 1.4E-03 | 2 | ||
rs397518473 | 1.000 | 0.080 | X | 111687924 | missense variant | AC/TT | mnv | 1 | |||
rs748203170 | 1.000 | 0.080 | 1 | 179551346 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
rs149117087 | 1.000 | 0.080 | 2 | 227022069 | missense variant | T/A | snv | 8.5E-04 | 2.0E-04 | 1 | |
rs1283740147 | 1.000 | 0.080 | 19 | 45777777 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs1186292917 | 1.000 | 0.080 | 14 | 104703420 | frameshift variant | GC/- | delins | 1 | |||
rs2071327 | 1.000 | 0.080 | 19 | 35831368 | synonymous variant | C/T | snv | 0.40 | 0.32 | 1 | |
rs4806213 | 1.000 | 0.080 | 19 | 35831699 | missense variant | T/C | snv | 9.7E-02 | 0.11 | 1 | |
rs920479356 | 1.000 | 0.080 | 1 | 179575836 | missense variant | C/G;T | snv | 1 |