ABCG2, ATP binding cassette subfamily G member 2 (Junior blood group), 9429
N. diseases: 420; N. variants: 68
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.820 | 1.000 | 12 | 2008 | 2019 | |||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.810 | 1.000 | 11 | 2008 | 2019 | |||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.800 | 1.000 | 14 | 2008 | 2019 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 10 | 2010 | 2019 | |||||||
|
0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||||
|
0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||||
|
0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2010 | 2015 | ||||||||
|
0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2010 | 2015 | ||||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2010 | 2013 | |||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.800 | 1.000 | 3 | 2010 | 2013 | |||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 88143429 | intron variant | A/C | snv | 0.48 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.882 | 0.160 | 4 | 88143429 | intron variant | A/C | snv | 0.48 |
|
Stomatognathic Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 4 | 88124179 | intron variant | A/G;T | snv | 0.88 |
|
0.700 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 88172856 | intron variant | C/T | snv | 0.58 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 4 | 88172856 | intron variant | C/T | snv | 0.58 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 4 | 88109689 | intron variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 4 | 88109689 | intron variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 4 | 88112375 | intron variant | T/C | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 4 | 88112375 | intron variant | T/C | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 3 | 2010 | 2013 |