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 | 0.080 | 11 | 2159919 | missense variant | C/A;G;T | snv | 4.4E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.840 | 1.000 | 7 | 1985 | 2010 | |||||||
|
1.000 | 0.080 | 11 | 2160872 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 5 | 1985 | 2010 | ||||||||
|
0.851 | 0.160 | 11 | 2160835 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 11 | 2160956 | missense variant | G/A;C | snv | 2.8E-05; 4.1E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2008 | 2014 | |||||||
|
1.000 | 0.080 | 11 | 2159877 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.120 | 11 | 2160901 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.882 | 0.120 | 11 | 2160878 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2160845 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2160832 | missense variant | C/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.080 | 11 | 2160829 | missense variant | A/C;G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2159920 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2159917 | missense variant | C/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2159898 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.120 | 11 | 2159862 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.851 | 0.120 | 11 | 2160809 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.790 | 1.000 | 12 | 2009 | 2019 | ||||||
|
0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 3 | 2016 | 2019 | ||||||
|
0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2018 | 2019 | ||||||
|
0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 11 | 2160955 | missense variant | C/T | snv | 9.3E-05 | 1.9E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2008 | 2014 | ||||||
|
1.000 | 0.080 | 11 | 2161302 | 5 prime UTR variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2010 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 2161314 | 5 prime UTR variant | GATGGCTGGGGGCTGAGGCTGCAA/- | delins | 2.1E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2010 |