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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 6 | 131860388 | missense variant | G/C;T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 131890410 | stop gained | G/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 6 | 131861704 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 131854961 | missense variant | A/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 6 | 131873023 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 131879910 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 6 | 131860417 | missense variant | G/A | snv | 1.2E-05 | 5.6E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 6 | 131864551 | frameshift variant | CAGCTTCCTAA/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 6 | 131850106 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 131861679 | missense variant | C/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 131890395 | missense variant | C/G;T | snv | 2.8E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 6 | 131860451 | missense variant | C/T | snv | 3.8E-04 | 3.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 6 | 131858735 | stop gained | C/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 6 | 131872926 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.200 | 6 | 131883709 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 131858748 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 6 | 131849999 | missense variant | G/A;T | snv | 1.2E-05; 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 | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 6 | 131849999 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.040 | 6 | 131860504 | missense variant | C/A;T | snv | 2.0E-05 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
6 | 131878279 | intron variant | C/T | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |