HNF1A, HNF1 homeobox A, 6927
N. diseases: 292; N. variants: 105
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 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.850 | 0.857 | 7 | 2004 | 2018 | ||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 0.917 | 12 | 2000 | 2011 | |||||||
|
1.000 | 0.080 | 12 | 120989098 | intron variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.780 | 1.000 | 9 | 2006 | 2018 | |||||||
|
1.000 | 0.080 | 12 | 120991391 | intron variant | T/C | snv | 0.43 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 12 | 120997504 | missense variant | C/T | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 12 | 120994264 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 1998 | 2016 | ||||||
|
0.882 | 0.080 | 12 | 120994238 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 12 | 120993532 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 120983004 | intron variant | G/A | snv | 0.28 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 12 | 121001151 | missense variant | G/A;C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 12 | 120978994 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.882 | 0.080 | 12 | 120988841 | missense variant | C/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.160 | 12 | 120997539 | synonymous variant | C/T | snv | 0.34 | 0.26 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 12 | 120999376 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 12 | 120996659 | missense variant | C/A | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 12 | 120999288 | missense variant | G/A;C | snv | 4.9E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |