BRIP1, BRCA1 interacting protein C-terminal helicase 1, 83990
N. diseases: 194; N. variants: 242
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 18 | 2005 | 2018 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 12 | 2005 | 2016 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 2005 | 2015 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2005 | 2016 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 0 | ||||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
Neoplasms | 0.700 | 0 | |||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 2011 | 2016 | ||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2015 | 2016 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 2014 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 2005 | 2016 |