Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs193929392 | 0.851 | 0.120 | X | 11118574 | missense variant | G/A | snv | 4 | |||
rs121434618 | 0.827 | 0.200 | X | 40075092 | missense variant | G/A;C | snv | 5.6E-06 | 7 | ||
rs17563 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 8 | |
rs200671094 | 0.851 | 0.080 | 14 | 53950508 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 | 4 | ||
rs33912345 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 7 | ||
rs74315439 | 0.790 | 0.200 | 21 | 43172104 | missense variant | C/A;T | snv | 7 | |||
rs587778872 | 0.807 | 0.200 | 2 | 208128231 | missense variant | G/A;C | snv | 8.0E-06 | 6 | ||
rs1329285216 | 0.925 | 0.080 | 10 | 93593997 | missense variant | A/T | snv | 2 | |||
rs755377651 | 0.925 | 0.080 | 1 | 47416625 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs80358194 | 0.925 | 0.080 | 1 | 47417035 | stop gained | C/A | snv | 1.6E-04 | 2 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs377669670 | 0.925 | 0.080 | 1 | 47416547 | missense variant | G/A | snv | 3.6E-05 | 6.4E-05 | 2 | |
rs724159949 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 15 | |||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs374823079 | 1.000 | 0.080 | 11 | 119341673 | missense variant | G/A | snv | 8.5E-05 | 3.5E-05 | 1 | |
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 32 | |
rs875989805 | 0.925 | 0.120 | X | 17687870 | stop gained | C/T | snv | 4 | |||
rs1554985722 | 0.925 | 0.200 | 11 | 31802714 | missense variant | C/G | snv | 2 | |||
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1057519946 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 18 | |||
rs387907095 | 0.925 | 0.080 | 2 | 232523492 | missense variant | G/C | snv | 2 | |||
rs397518483 | 0.851 | 0.120 | 3 | 25596428 | missense variant | C/A;T | snv | 9 | |||
rs869025222 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 9 |