Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913363 | 1.000 | 0.040 | 7 | 140753361 | missense variant | T/C | snv | 1 | |||
rs121913372 | 1.000 | 0.040 | 7 | 140753321 | missense variant | CT/AA | mnv | 1 | |||
rs121913373 | 1.000 | 0.040 | 7 | 140753321 | missense variant | C/T | snv | 1 | |||
rs1639679 | 1.000 | 0.040 | 7 | 140778454 | intron variant | G/T | snv | 9.8E-02 | 1 | ||
rs759851035 | 1.000 | 0.040 | 13 | 32394766 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs80359204 | 1.000 | 0.040 | 13 | 32394741 | missense variant | A/G | snv | 1 | |||
rs11552823 | 1.000 | 0.040 | 9 | 21971117 | missense variant | G/A;C | snv | 4.3E-06 | 1 | ||
rs35741010 | 1.000 | 0.040 | 9 | 21971055 | missense variant | C/T | snv | 4.3E-06 | 1 | ||
rs755927351 | 1.000 | 0.040 | 9 | 21970968 | missense variant | G/A | snv | 4.1E-06 | 1 | ||
rs878853645 | 1.000 | 0.040 | 9 | 21971176 | missense variant | C/G | snv | 1 | |||
rs7513548 | 1.000 | 0.040 | 1 | 6136457 | intron variant | G/A | snv | 0.42 | 1 | ||
rs121913394 | 1.000 | 0.040 | 3 | 41224549 | missense variant | G/A | snv | 1 | |||
rs121913395 | 1.000 | 0.040 | 3 | 41224573 | missense variant | G/A | snv | 1 | |||
rs121913416 | 1.000 | 0.040 | 3 | 41224575 | inframe deletion | TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- | delins | 1 | |||
rs121913417 | 1.000 | 0.040 | 3 | 41224583 | inframe deletion | GGCAGCAACAGTCTTACCTGGACT/- | delins | 1 | |||
rs77064436 | 1.000 | 0.040 | 3 | 41224577 | missense variant | T/C;G | snv | 1 | |||
rs7412746 | 1.000 | 0.040 | 1 | 150887995 | intron variant | C/T | snv | 0.41 | 1 | ||
rs10852628 | 1.000 | 0.040 | 16 | 90013519 | intron variant | C/A;T | snv | 1 | |||
rs8059973 | 1.000 | 0.040 | 16 | 90013126 | intron variant | A/G | snv | 0.78 | 1 | ||
rs28720291 | 1.000 | 0.040 | 11 | 61322299 | synonymous variant | C/T | snv | 5.9E-03 | 6.3E-03 | 1 | |
rs4785751 | 1.000 | 0.040 | 16 | 89963009 | intron variant | G/A | snv | 0.37 | 1 | ||
rs7195043 | 1.000 | 0.040 | 16 | 89954453 | intron variant | C/T | snv | 0.58 | 1 | ||
rs8051733 | 1.000 | 0.040 | 16 | 89957798 | intron variant | A/G | snv | 0.30 | 1 | ||
rs9960018 | 1.000 | 0.040 | 18 | 3793080 | intron variant | C/T | snv | 0.13 | 1 | ||
rs1051849 | 1.000 | 0.040 | 17 | 37513222 | 3 prime UTR variant | T/C | snv | 9.9E-02 | 1 |