Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042821 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 16 | ||
rs536562413 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 15 | |
rs2020912 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 5 | ||
rs1114167795 | 0.851 | 0.080 | 2 | 47799482 | missense variant | C/T | snv | 4 | |||
rs1064793184 | 0.851 | 0.080 | 2 | 47791055 | missense variant | A/G | snv | 4 | |||
rs587779287 | 0.827 | 0.200 | 2 | 47806280 | frameshift variant | GTACATTATTTTC/- | delins | 4 | |||
rs63750949 | 0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv | 4 | |||
rs63750111 | 0.882 | 0.200 | 2 | 47800914 | stop gained | C/A;G | snv | 3 | |||
rs63750258 | 0.851 | 0.200 | 2 | 47800966 | stop gained | G/A;C;T | snv | 3 | |||
rs63750741 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 3 | ||
rs763606858 | 0.882 | 0.200 | 2 | 47799854 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 3 | ||
rs863225401 | 0.925 | 0.040 | 2 | 47799866 | stop gained | G/A | snv | 3 | |||
rs63750138 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 3 | ||
rs61753793 | 0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 | 2 | |
rs34374438 | 1.000 | 0.080 | 2 | 47800544 | missense variant | A/T | snv | 3.9E-04 | 3.5E-04 | 2 | |
rs728619 | 2 | 47799596 | missense variant | A/C | snv | 2 | |||||
rs41295270 | 2 | 47799722 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 | 2 | ||||
rs984907158 | 0.925 | 0.080 | 2 | 47799048 | synonymous variant | T/C | snv | 4.0E-06 | 2.8E-05 | 2 | |
rs876661110 | 0.925 | 0.120 | 2 | 47791093 | missense variant | G/A | snv | 2 | |||
rs3136228 | 0.925 | 0.040 | 2 | 47782677 | intron variant | T/G | snv | 0.30 | 2 | ||
rs786201042 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 2 | ||
rs369042519 | 0.925 | 0.080 | 2 | 47803438 | missense variant | C/T | snv | 8.0E-06 | 5.6E-05 | 2 | |
rs374486449 | 0.925 | 0.080 | 2 | 47798814 | missense variant | A/C | snv | 2.0E-05 | 5.6E-05 | 2 | |
rs267608052 | 2 | 47799352 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||||
rs1800932 | 2 | 47790942 | synonymous variant | A/G | snv | 0.13 | 0.15 | 2 |