Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs36204594 | 1.000 | 0.040 | 9 | 21971180 | missense variant | G/A;T | snv | 2 | |||
rs4238833 | 1.000 | 0.040 | 16 | 89984281 | intron variant | G/T | snv | 0.60 | 2 | ||
rs4408545 | 1.000 | 0.040 | 16 | 89977620 | non coding transcript exon variant | C/G;T | snv | 0.40 | 2 | ||
rs4785752 | 1.000 | 0.040 | 16 | 89968733 | upstream gene variant | A/G | snv | 0.42 | 2 | ||
rs4911442 | 1.000 | 0.040 | 20 | 34767243 | intron variant | G/A | snv | 0.93 | 2 | ||
rs62389423 | 1.000 | 0.040 | 6 | 421281 | intergenic variant | G/A;T | snv | 8.5E-02 | 2 | ||
rs7188458 | 1.000 | 0.040 | 16 | 89660076 | 3 prime UTR variant | G/A;T | snv | 0.45 | 2 | ||
rs755007339 | 1.000 | 0.040 | 1 | 241098711 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 2 | ||
rs762807774 | 1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 | 2 | ||
rs765857063 | 1.000 | 0.040 | 3 | 12618634 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs776761577 | 1.000 | 0.040 | 6 | 33179444 | missense variant | C/A;T | snv | 2.9E-05 | 2 | ||
rs778015444 | 1.000 | 0.040 | 4 | 54274917 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs866551255 | 1.000 | 0.040 | 6 | 36684145 | missense variant | G/A | snv | 2 | |||
rs876658220 | 1.000 | 0.040 | 9 | 21971147 | frameshift variant | T/- | delins | 2 | |||
rs876658511 | 1.000 | 0.040 | 9 | 21971147 | frameshift variant | TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- | delins | 2 | |||
rs1015363 | 1.000 | 0.040 | 20 | 34150529 | intergenic variant | G/A | snv | 0.69 | 1 | ||
rs10231520 | 1.000 | 0.040 | 7 | 20742471 | intron variant | C/T | snv | 0.29 | 1 | ||
rs10515789 | 1.000 | 0.040 | 5 | 159079407 | intron variant | T/G | snv | 0.11 | 1 | ||
rs1051849 | 1.000 | 0.040 | 17 | 37513222 | 3 prime UTR variant | T/C | snv | 9.9E-02 | 1 | ||
rs1057519703 | 1.000 | 0.040 | 4 | 54727418 | missense variant | A/C;T | snv | 1 | |||
rs1057519705 | 1.000 | 0.040 | 4 | 54727464 | missense variant | A/G | snv | 1 | |||
rs1057519706 | 1.000 | 0.040 | 4 | 54727474 | missense variant | T/G | snv | 1 | |||
rs1057519733 | 1.000 | 0.040 | 15 | 66481793 | missense variant | G/A | snv | 1 | |||
rs1057519734 | 1.000 | 0.040 | 15 | 66485086 | missense variant | C/T | snv | 1 | |||
rs1057519735 | 1.000 | 0.040 | 15 | 66490577 | missense variant | A/C | snv | 1 |