Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs746536347 | 0.882 | 0.040 | 1 | 1490639 | missense variant | C/T | snv | 2.6E-05 | 3.5E-05 | 3 | |
rs755492182 | 0.882 | 0.080 | 1 | 236735677 | missense variant | C/T | snv | 3 | |||
rs111377893 | 0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv | 2 | |||
rs148395034 | 0.925 | 0.040 | 1 | 26058482 | stop gained | G/A;C | snv | 7.0E-04; 5.6E-05 | 2 | ||
rs200631005 | 0.925 | 0.040 | 1 | 236751561 | missense variant | A/C;G | snv | 2.4E-05; 1.1E-03 | 2 | ||
rs3729843 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 2 | ||
rs45501500 | 0.925 | 0.040 | 1 | 201363390 | missense variant | C/T | snv | 2 | |||
rs727504331 | 0.925 | 0.080 | 1 | 201365242 | missense variant | A/C | snv | 8.0E-06 | 2 | ||
rs752427294 | 1.000 | 0.040 | 1 | 32335976 | missense variant | C/G | snv | 1.0E-05 | 3.5E-05 | 2 | |
rs779640835 | 1.000 | 0.040 | 1 | 237566723 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 2 | ||
rs786204951 | 0.925 | 0.040 | 1 | 236753990 | missense variant | A/G | snv | 2 | |||
rs79023478 | 1.000 | 0.040 | 1 | 228315865 | missense variant | G/A | snv | 8.4E-03 | 3.0E-02 | 2 | |
rs1289010014 | 1.000 | 0.040 | 1 | 201359623 | missense variant | A/G | snv | 1 | |||
rs140523053 | 1.000 | 0.040 | 1 | 26067352 | missense variant | G/A | snv | 1.4E-03 | 1.3E-03 | 1 | |
rs141121678 | 1.000 | 0.040 | 1 | 201359220 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-05 | 1 | ||
rs3729842 | 1.000 | 0.040 | 1 | 201368042 | intron variant | A/G | snv | 0.84 | 1 | ||
rs376923877 | 1.000 | 0.040 | 1 | 201359637 | missense variant | G/A;T | snv | 8.9E-05 | 1 | ||
rs377334933 | 1.000 | 0.040 | 1 | 26061277 | missense variant | G/C | snv | 4.8E-05 | 3.5E-05 | 1 | |
rs397516459 | 1.000 | 0.040 | 1 | 201365281 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs727504255 | 1.000 | 0.040 | 1 | 201365630 | missense variant | C/T | snv | 1 | |||
rs727504277 | 1.000 | 0.040 | 1 | 201365284 | inframe deletion | TCC/- | delins | 1 | |||
rs730881109 | 1.000 | 0.040 | 1 | 201361322 | missense variant | T/C | snv | 1 | |||
rs730881122 | 1.000 | 0.040 | 1 | 201365295 | missense variant | T/G | snv | 1 | |||
rs868584399 | 1.000 | 0.040 | 1 | 203175396 | missense variant | A/G | snv | 1 | |||
rs990771026 | 1.000 | 0.040 | 1 | 201359647 | missense variant | T/C | snv | 7.0E-06 | 1 |