TSHR, thyroid stimulating hormone receptor, 7253
N. diseases: 250; N. variants: 77
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 14 | 80955786 | missense variant | G/C | snv | 5.2E-03 | 5.0E-03 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.120 | 14 | 80996551 | intron variant | T/C | snv | 0.20 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2008 | 2016 | |||||||
|
0.925 | 0.160 | 14 | 80955834 | missense variant | C/A;G | snv | 6.8E-02; 1.2E-05 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.050 | 0.600 | 5 | 1999 | 2003 | |||||||
|
0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.040 | 0.750 | 4 | 1999 | 2003 | ||||||
|
0.882 | 0.160 | 14 | 80966202 | intron variant | A/G | snv | 0.40 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.770 | 1.000 | 8 | 2009 | 2017 | |||||||
|
0.925 | 0.120 | 14 | 80984708 | intron variant | C/T | snv | 0.37 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.040 | 1.000 | 4 | 2009 | 2016 | |||||||
|
1.000 | 0.120 | 14 | 80984885 | intron variant | C/T | snv | 0.37 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.810 | 1.000 | 2 | 2011 | 2014 | |||||||
|
1.000 | 0.120 | 14 | 81056784 | intron variant | T/C | snv | 0.13 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 0.120 | 14 | 80976823 | intron variant | A/G | snv | 0.18 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.120 | 14 | 80978023 | intron variant | G/A | snv | 0.27 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 0.120 | 14 | 81031049 | intron variant | T/C | snv | 0.24 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 0.120 | 14 | 80982038 | non coding transcript exon variant | T/G | snv | 0.48 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2011 | 2014 | |||||||
|
1.000 | 0.120 | 14 | 81002610 | intron variant | G/A;C | snv |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.120 | 14 | 80990350 | intron variant | C/T | snv | 0.35 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.120 | 14 | 81143416 | missense variant | T/C;G | snv | 4.0E-06 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.160 | 14 | 81139828 | missense variant | G/A;T | snv |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 14 | 81108085 | intron variant | G/A | snv | 0.63 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 14 | 80991228 | intron variant | T/C | snv | 0.20 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 14 | 80962220 | intron variant | T/C | snv | 0.57 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 14 | 80968855 | intron variant | C/T | snv | 0.59 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 14 | 80955913 | non coding transcript exon variant | G/C | snv | 0.21 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 14 | 80992418 | 3 prime UTR variant | T/A | snv | 0.41 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 14 | 81128036 | intron variant | C/T | snv | 0.13 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 14 | 80978764 | intron variant | A/G | snv | 0.43 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 14 | 80996305 | intron variant | C/G | snv | 0.39 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |