Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 11 | 35230997 | 3 prime UTR variant | G/A | snv | 6.8E-02 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||||
|
2 | 14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 | 0.020 | < 0.001 | 2 | 2003 | 2006 | |||||
|
2 | 22 | 28689135 | missense variant | C/A;G | snv | 4.3E-06 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||||
|
2 | 17 | 43095876 | missense variant | C/A;T | snv | 0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||
|
2 | 6 | 128209162 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 17 | 18340813 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 7 | 143268092 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 20 | 46016407 | 3 prime UTR variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 13 | 32332560 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 7 | 5973425 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 6 | 83646407 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 12 | 130367629 | intron variant | G/T | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 22 | 20092080 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 100846756 | non coding transcript exon variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 4 | 103196214 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 5 | 76715788 | intron variant | -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 11 | 535098 | intron variant | T/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 16 | 11915447 | missense variant | C/A | snv | 0.48 | 0.43 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
2 | 15 | 51227749 | intron variant | AGA/-;AGAAGA | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 4 | 73410405 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
2 | 6 | 160633826 | missense variant | C/T | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
2 | 12 | 9181030 | stop gained | G/A | snv | 6.6E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 10 | 133394232 | synonymous variant | C/A;G;T | snv | 9.2E-06; 9.2E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 198706883 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 4 | 86701433 | missense variant | A/C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |