PRNP, prion protein, 5621
N. diseases: 426; N. variants: 47
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 20 | 4699935 | missense variant | C/T | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 20 | 4699663 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.882 | 0.200 | 20 | 4699570 | missense variant | C/T | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 20 | 4699813 | missense variant | T/C | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.807 | 0.160 | 20 | 4699780 | missense variant | A/G | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.120 | 20 | 4699894 | missense variant | A/G | snv | 4.0E-06 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 20 | 4699807 | missense variant | A/C | snv | 6.0E-05 | 2.8E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||||
|
0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.040 | 1.000 | 4 | 1995 | 2013 | ||||||||
|
0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.070 | 1.000 | 7 | 1998 | 2015 | ||||||
|
0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins |
|
Infections; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 4699827 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.730 | 1.000 | 3 | 2000 | 2014 | ||||||
|
0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.750 | 1.000 | 16 | 1990 | 2014 | ||||||
|
0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.770 | 1.000 | 18 | 1990 | 2013 | ||||||
|
0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.800 | 0.955 | 22 | 1990 | 2015 | ||||||||
|
1.000 | 0.120 | 20 | 4696446 | intron variant | G/A | snv | 0.23 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv |
|
Infections; Nervous System Diseases; Mental Disorders | 0.830 | 1.000 | 13 | 1990 | 2010 | ||||||||
|
0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.870 | 1.000 | 18 | 1990 | 2016 | ||||||
|
0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 44 | 1990 | 2019 | |||||||
|
0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 27 | 1990 | 2019 | ||||||
|
0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 |
|
Infections; Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 14 | 1996 | 2015 |