HNF4A, hepatocyte nuclear factor 4 alpha, 3172
N. diseases: 340; N. variants: 74
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.830 | 1.000 | 7 | 2011 | 2017 | |||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 4 | 2010 | 2019 | ||||||
|
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 | ||||||
|
1.000 | 0.080 | 20 | 44361137 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 20 | 44373081 | intron variant | C/T | snv | 0.14 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 20 | 44389620 | intron variant | G/A | snv | 0.12 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 20 | 44370990 | intron variant | A/C | snv | 0.37 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 1.000 | 10 | 2006 | 2019 | |||||||
|
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 | ||||||||
|
0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 2005 | 2012 | ||||||||
|
0.925 | 0.120 | 20 | 44401795 | intron variant | G/A | snv | 0.11 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.925 | 0.080 | 20 | 44406498 | intron variant | C/T | snv | 0.58 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 0.667 | 3 | 2005 | 2017 | |||||||
|
1.000 | 0.080 | 20 | 44410400 | intron variant | G/A | snv | 0.15 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2009 | 2017 | |||||||
|
0.882 | 0.080 | 20 | 44406084 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||||
|
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 | 0.080 | 20 | 44424278 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
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 | |||||||
|
1.000 | 0.080 | 20 | 44428431 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 20 | 44419772 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 20 | 44414649 | missense variant | C/T | snv | 1.7E-04 | 1.0E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 20 | 44395409 | intron variant | G/T | snv | 0.42 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
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 | |||||||
|
1.000 | 0.080 | 20 | 44415722 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |