Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1556446493 | X | 108668328 | missense variant | G/T | snv | 3 | |||||
rs2575390 | 0.925 | 0.080 | 16 | 23835433 | upstream gene variant | G/A;C | snv | 3 | |||
rs6066043 | 1.000 | 0.080 | 20 | 46659814 | intron variant | G/A;T | snv | 3 | |||
rs7252778 | 1.000 | 0.080 | 19 | 32869463 | intron variant | C/A;T | snv | 3 | |||
rs730882222 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 3 | |||
rs74183647 | 18 | 79396171 | 5 prime UTR variant | G/A;C | snv | 3 | |||||
rs770084716 | 1.000 | 1 | 243330591 | stop gained | C/G;T | snv | 4.0E-06 | 3 | |||
rs11011653 | 1.000 | 0.080 | 10 | 19875064 | intron variant | A/G;T | snv | 2 | |||
rs11078903 | 17 | 39475671 | intron variant | G/A;C;T | snv | 2 | |||||
rs112201728 | 1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv | 2 | |||
rs117935223 | 1.000 | 0.080 | 22 | 18923820 | non coding transcript exon variant | C/A | snv | 2 | |||
rs12194000 | 1.000 | 0.080 | 6 | 110454809 | intron variant | A/G;T | snv | 2 | |||
rs1302207706 | 1.000 | 0.080 | 7 | 95316748 | missense variant | C/T | snv | 2 | |||
rs1365501228 | 1.000 | 0.080 | 6 | 43770732 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs142864856 | 1.000 | 0.080 | 2 | 151100757 | intergenic variant | CA/-;CACA;CACACA;CACACACA | delins | 2 | |||
rs1464816 | 1.000 | 0.120 | 1 | 204159726 | intron variant | T/C;G | snv | 2 | |||
rs174557 | 1.000 | 0.080 | 11 | 61813896 | intron variant | A/C;G;T | snv | 2 | |||
rs201631095 | 1.000 | 0.080 | 19 | 8208084 | intron variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA | delins | 2 | |||
rs2074380 | 4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 | 2 | ||||
rs2393778 | 1.000 | 0.080 | 12 | 120702516 | upstream gene variant | G/C;T | snv | 2 | |||
rs3093058 | 1 | 159715525 | upstream gene variant | T/A;C;G | snv | 2 | |||||
rs375811360 | 1.000 | 0.080 | 2 | 73643197 | intron variant | C/G | snv | 2 | |||
rs7253584 | 1.000 | 0.080 | 19 | 8222034 | intron variant | T/A;C | snv | 2 | |||
rs7259572 | 1.000 | 0.080 | 19 | 8226788 | intron variant | T/A;G | snv | 2 | |||
rs72881923 | 1.000 | 0.080 | 6 | 67286779 | intergenic variant | T/A;C | snv | 2 |