Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518817 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 4 | |||
rs757744435 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 4 | |||
rs2160203 | 1.000 | 0.080 | 2 | 102344364 | 3 prime UTR variant | A/C;G | snv | 2 | |||
rs4988957 | 1.000 | 0.080 | 2 | 102351615 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.46 | 2 | |
rs1057520044 | 1.000 | 0.080 | 10 | 121498597 | missense variant | T/C | snv | 1 | |||
rs1060499550 | 1.000 | 0.080 | 9 | 106926891 | frameshift variant | TG/A | delins | 1 | |||
rs1060499551 | 1.000 | 0.080 | 9 | 106928174 | frameshift variant | A/- | delins | 1 | |||
rs12188164 | 1.000 | 0.080 | 5 | 428121 | intron variant | C/A | snv | 0.27 | 1 | ||
rs12226919 | 1.000 | 0.080 | 12 | 10997434 | missense variant | G/T | snv | 0.42 | 0.30 | 1 | |
rs12226920 | 1.000 | 0.080 | 12 | 10997447 | missense variant | G/T | snv | 0.42 | 0.29 | 1 | |
rs1224606327 | 1.000 | 0.080 | 10 | 121485399 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs12883884 | 1.000 | 0.080 | 14 | 70050466 | intron variant | T/C;G | snv | 1 | |||
rs1350033384 | 1.000 | 0.080 | 22 | 40409697 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs142511858 | 1.000 | 0.080 | 11 | 16341047 | missense variant | C/T | snv | 1.3E-03 | 6.8E-04 | 1 | |
rs2282851 | 1.000 | 0.080 | 6 | 33312532 | intron variant | C/T | snv | 0.23 | 1 | ||
rs2917454 | 1.000 | 0.080 | 10 | 77132657 | intron variant | T/C | snv | 0.14 | 1 | ||
rs373496046 | 1.000 | 0.080 | 4 | 1803761 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
rs3810831 | 1.000 | 0.080 | 2 | 86791424 | 5 prime UTR variant | A/G | snv | 0.20 | 1 | ||
rs38850 | 1.000 | 0.080 | 7 | 116697595 | intron variant | G/A | snv | 0.20 | 1 | ||
rs42336 | 1.000 | 0.080 | 7 | 116801535 | downstream gene variant | A/G | snv | 0.34 | 1 | ||
rs4504543 | 1.000 | 0.080 | 7 | 36643290 | intron variant | T/C | snv | 0.41 | 1 | ||
rs4532099 | 1.000 | 0.080 | 3 | 72266805 | intron variant | T/C | snv | 0.82 | 1 | ||
rs6907229 | 1.000 | 0.080 | 6 | 73174426 | intron variant | C/T | snv | 0.48 | 1 | ||
rs7528947 | 1.000 | 0.080 | 1 | 192366662 | 3 prime UTR variant | A/C;G;T | snv | 1 | |||
rs761012674 | 1.000 | 0.080 | 10 | 121503884 | missense variant | T/C | snv | 4.0E-06 | 1 |