Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs34598529 | 0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 | 14 | ||
rs11886868 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 12 | ||
rs33941377 | 0.752 | 0.080 | 11 | 5227158 | 5 prime UTR variant | G/A;C;T | snv | 12 | |||
rs33944208 | 0.752 | 0.080 | 11 | 5227159 | 5 prime UTR variant | G/A;C;T | snv | 12 | |||
rs4671393 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 11 | |||
rs11549407 | 0.752 | 0.080 | 11 | 5226774 | stop gained | G/A;C;T | snv | 3.3E-04 | 11 | ||
rs33915217 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 11 | ||
rs33986703 | 0.752 | 0.080 | 11 | 5226970 | stop gained | T/A;C;G | snv | 5.6E-05; 3.2E-05 | 11 | ||
rs35004220 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 11 | |
rs33945777 | 0.763 | 0.080 | 11 | 5226576 | splice donor variant | C/A;G;T | snv | 4.0E-05 | 10 | ||
rs33971440 | 0.763 | 0.080 | 11 | 5226929 | splice donor variant | C/A;T | snv | 7.2E-05; 9.5E-05 | 10 | ||
rs34690599 | 0.763 | 0.080 | 11 | 5225832 | intron variant | G/C | snv | 2.8E-05 | 10 | ||
rs35724775 | 0.763 | 0.080 | 11 | 5226924 | splice region variant | A/G;T | snv | 1.2E-04 | 10 | ||
rs122445108 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 7 | |||
rs1427407 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 6 | |||
rs3783613 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 6 | ||
rs33925391 | 0.882 | 0.080 | 11 | 5225662 | missense variant | A/C;G;T | snv | 4.0E-06 | 4 | ||
rs33964317 | 0.925 | 0.080 | 16 | 176759 | missense variant | T/A;C;Y | snv | 1.7E-04 | 1.4E-05 | 3 | |
rs66650371 | 0.925 | 0.080 | 6 | 135097495 | intron variant | CTA/-;CTACTA | delins | 0.19 | 3 | ||
rs1265843445 | 0.925 | 0.080 | 16 | 177311 | missense variant | T/G | snv | 4.0E-06 | 2 | ||
rs28928875 | 0.925 | 0.080 | 16 | 177056 | missense variant | G/A;C | snv | 2 | |||
rs281864810 | 0.925 | 0.080 | 16 | 172955 | missense variant | T/A;C | snv | 2 | |||
rs281864855 | 0.925 | 0.080 | 16 | 173246 | missense variant | C/G;T | snv | 2 | |||
rs41464951 | 0.925 | 0.080 | 16 | 173598 | stop lost | T/A;C;G | snv | 5.6E-05 | 2 |