ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1, 5167
N. diseases: 247; N. variants: 52
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 0.800 | 10 | 2009 | 2019 | |||||||
|
0.925 | 0.040 | 6 | 131860504 | missense variant | C/A;T | snv | 2.0E-05 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 8 | 2003 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 131877005 | missense variant | G/C | snv | 8.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 2003 | 2016 | ||||||
|
0.925 | 0.080 | 6 | 131861704 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 2003 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 131864886 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 2003 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 131875849 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 131884949 | missense variant | A/G | snv | 1.2E-04 | 2.7E-04 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 131872076 | missense variant | A/C;G | snv | 4.0E-06; 8.8E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||||
|
0.925 | 0.200 | 6 | 131884994 | missense variant | A/G | snv | 7.6E-05 | 6.3E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||||
|
0.925 | 0.200 | 6 | 131872926 | missense variant | C/T | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 2003 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 131874314 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 2003 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 131858701 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 131854955 | missense variant | C/A | snv | 2.0E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 131852201 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 131864526 | missense variant | G/A | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 131869451 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | ||||||
|
1.000 | 0.040 | 6 | 131877024 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.040 | 1.000 | 4 | 2008 | 2019 | |||||||
|
0.925 | 0.200 | 6 | 131860388 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
1.000 | 0.200 | 6 | 131890435 | missense variant | A/C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.800 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.925 | 0.200 | 6 | 131884994 | missense variant | A/G | snv | 7.6E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||||
|
1.000 | 6 | 131851241 | missense variant | G/A | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
1.000 | 6 | 131851202 | missense variant | G/C | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
1.000 | 6 | 131851157 | missense variant | G/C | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2015 |