Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs1800471 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 48 | ||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs188942711 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs748106387 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 9 | ||
rs267602852 | 0.827 | 0.160 | 11 | 32417631 | missense variant | G/A | snv | 7 | |||
rs530318579 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 6 | ||
rs530391015 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs71785313 | 0.882 | 0.120 | 22 | 36265996 | inframe deletion | TTATAA/- | delins | 5 | |||
rs753350907 | 0.827 | 0.080 | 10 | 100806499 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs75462234 | 0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins | 4 | |||
rs1003629254 | 0.925 | 0.080 | 2 | 88595599 | missense variant | C/G;T | snv | 2 | |||
rs1131692055 | 0.925 | 0.080 | 10 | 100781314 | missense variant | G/A | snv | 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 | |||
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 | |||
rs1241977606 | 0.925 | 0.080 | 4 | 73416326 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs1422329310 | 0.925 | 0.280 | 10 | 94265844 | synonymous variant | G/A | snv | 4.0E-06 | 2 | ||
rs1186292917 | 1.000 | 0.080 | 14 | 104703420 | frameshift variant | GC/- | delins | 1 | |||
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 | ||
rs920479356 | 1.000 | 0.080 | 1 | 179575836 | missense variant | C/G;T | snv | 1 |