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 | 20 | 44414578 | stop gained | T/A | snv |
|
0.700 | 1.000 | 7 | 1996 | 2014 | ||||||||||
|
0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 1997 | 2007 | |||||||
|
1.000 | 0.080 | 20 | 44424243 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 1997 | 2007 | ||||||||
|
1.000 | 0.080 | 20 | 44428409 | missense variant | G/A | snv | 8.0E-06; 8.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.080 | 20 | 44406169 | missense variant | G/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 20 | 44413735 | missense variant | A/G | snv | 5.6E-05 | 5.6E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
1.000 | 0.080 | 20 | 44414655 | missense variant | A/G | snv | 4.3E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 0.080 | 20 | 44424101 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||||
|
0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44414531 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2000 | 2001 | ||||||
|
1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.080 | 20 | 44413708 | missense variant | C/A;T | snv | 4.0E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.080 | 20 | 44413708 | missense variant | C/A;T | snv | 4.0E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
0.925 | 0.080 | 20 | 44414531 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
0.925 | 0.080 | 20 | 44414531 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||||||
|
1.000 | 0.080 | 20 | 44399397 | intron variant | A/G | snv | 0.63 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |