INS, insulin, 3630
N. diseases: 405; N. variants: 37
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 | 0.080 | 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 | ||||||||
|
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 | |||||||
|
1.000 | 0.080 | 11 | 2160887 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2160868 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.080 | 11 | 2159935 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2159883 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 2161189 | 5 prime UTR variant | T/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 2160946 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 2159793 | synonymous variant | T/C | snv | 4.5E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 2160969 | start lost | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 2160028 | intron variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 2160544 | intron variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 |