Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131692061 | MT | 12271 | non coding transcript exon variant | T/C | snv | 1 | |||||
rs1131692062 | MT | 12283 | non coding transcript exon variant | G/A | snv | 1 | |||||
rs1131692064 | MT | 7989 | missense variant | T/C | snv | 1 | |||||
rs1365700579 | 12 | 32750105 | missense variant | C/G;T | snv | 8.0E-06 | 1 | ||||
rs1553877864 | 3 | 193643430 | missense variant | C/T | snv | 1 | |||||
rs1554042187 | 5 | 74758878 | missense variant | T/G | snv | 1 | |||||
rs1554887028 | 10 | 100989213 | missense variant | C/A | snv | 1 | |||||
rs1554887222 | 10 | 100989791 | missense variant | T/C | snv | 1 | |||||
rs1566433812 | 14 | 22768050 | frameshift variant | -/CAGAGCAG | delins | 1 | |||||
rs200944917 | 17 | 18305208 | stop gained | G/A;T | snv | 1.0E-04 | 1 | ||||
rs207460001 | MT | 15197 | missense variant | T/C | snv | 1 | |||||
rs2853493 | MT | 11467 | synonymous variant | A/G | snv | 1 | |||||
rs2853499 | MT | 12372 | synonymous variant | G/A | snv | 1 | |||||
rs370475970 | 16 | 1985996 | missense variant | C/T | snv | 3.2E-05 | 7.7E-05 | 1 | |||
rs370863743 | 6 | 151436526 | missense variant | G/A;T | snv | 2.4E-05 | 1 | ||||
rs515726180 | 8 | 102238827 | splice region variant | C/T | snv | 8.0E-06 | 2.1E-05 | 1 | |||
rs746538436 | 5 | 74746138 | frameshift variant | T/- | del | 1 | |||||
rs755933881 | 1 | 226982969 | missense variant | G/A | snv | 1 | |||||
rs761283105 | 5 | 74747731 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |||
rs771894262 | 6 | 151433213 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs772751581 | 14 | 22769791 | missense variant | G/T | snv | 4.0E-06 | 1 | ||||
rs773470671 | 6 | 151427481 | splice donor variant | C/T | snv | 2.4E-05 | 1 | ||||
rs775256289 | 12 | 32750046 | inframe insertion | -/TGATCAGACATGACCTCC | delins | 1.6E-05 | 1 | ||||
rs863224028 | 16 | 1984415 | frameshift variant | C/- | delins | 1 | |||||
rs886037771 | 6 | 151405734 | missense variant | G/A | snv | 1 |