CSGALNACT1, chondroitin sulfate N-acetylgalactosaminyltransferase 1, 55790
N. diseases: 28; N. variants: 20
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 | 0.040 | 8 | 19727665 | intron variant | C/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 19521910 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 8 | 19732587 | intron variant | G/A;C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
8 | 19505795 | missense variant | G/A;T | snv | 2.4E-03; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19726039 | intron variant | A/C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 19726822 | intron variant | G/A;C;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 19728914 | intron variant | C/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 19732501 | non coding transcript exon variant | A/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 8 | 19732501 | non coding transcript exon variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.160 | 8 | 19418732 | missense variant | G/C | snv | 2.4E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 19458576 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
8 | 19458576 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
8 | 19405853 | missense variant | A/C | snv | 1.5E-04 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
8 | 19405853 | missense variant | A/C | snv | 1.5E-04 | 9.8E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 8 | 19458486 | missense variant | T/C | snv | 1.4E-04 | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
1.000 | 0.080 | 8 | 19505458 | missense variant | G/A | snv | 1.7E-03 | 5.0E-04 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
8 | 19410684 | intron variant | C/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 8 | 19729069 | intron variant | G/A | snv | 0.14 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 19729606 | intron variant | C/T | snv | 0.15 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 8 | 19731602 | intron variant | G/T | snv | 0.16 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
8 | 19497825 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19673452 | intron variant | T/C | snv | 0.46 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 8 | 19732533 | non coding transcript exon variant | A/G | snv | 0.90 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 |