ABCC9, ATP binding cassette subfamily C member 9, 10060
N. diseases: 175; N. variants: 27
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 12 | 21908099 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.810 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
1.000 | 0.200 | 12 | 21842440 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.851 | 0.200 | 12 | 21842327 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 0.200 | 12 | 21842326 | missense variant | C/G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2012 | 2015 | |||||||
|
1.000 | 0.200 | 12 | 21844884 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 0.200 | 12 | 21842441 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.200 | 12 | 21845641 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.200 | 12 | 21933888 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 1999 | 2013 | |||||||||
|
0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 8 | 1999 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 21817283 | missense variant | C/T | snv |
|
0.700 | 1.000 | 8 | 1999 | 2013 | |||||||||
|
0.925 | 0.200 | 12 | 21842326 | missense variant | C/G;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2012 | 2017 | |||||||
|
1.000 | 0.200 | 12 | 21910852 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 0.200 | 12 | 21842441 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
12 | 21887879 | stop gained | G/A | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
12 | 21839392 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |