Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Neoplasms
|
1644 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.080 | 1.000 | 8 | 2000 | 2019 | |||||
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
18 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.810 | 1.000 | 7 | 1995 | 2016 | |||||
Craniosynostosis
|
90 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 1.000 | 6 | 1995 | 2015 | |||||
Carcinoma
|
103 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.740 | 1.000 | 5 | 1999 | 2005 | |||||
Carcinoma of bladder
|
309 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.720 | 1.000 | 4 | 2007 | 2019 | |||||
Malignant neoplasm of urinary bladder
|
316 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.820 | 1.000 | 4 | 1999 | 2019 | |||||
Bladder Neoplasm
|
281 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||
Squamous cell carcinoma
|
257 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.020 | 1.000 | 2 | 2001 | 2018 | |||||
Squamous cell carcinoma of lung
|
283 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.710 | 1.000 | 2 | 2015 | 2016 | |||||
Squamous cell carcinoma of the head and neck
|
348 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.710 | 1.000 | 2 | 2016 | 2019 | |||||
Carcinoma of urinary bladder, superficial
|
6 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Congenital Abnormality
|
73 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
Malignant Neoplasms
|
1641 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
Nasopharyngeal carcinoma
|
320 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Papillary renal cell carcinoma, sporadic
|
30 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Primary malignant neoplasm
|
1374 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
Seborrheic keratosis
|
21 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||
Transitional cell carcinoma of bladder
|
158 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Achondroplasia
|
21 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | ||||||||
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
9 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | ||||||||
CATSHL syndrome
|
10 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | ||||||||
cervical cancer
|
268 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | ||||||||
Cervix carcinoma
|
283 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | ||||||||
Colorectal Carcinoma
|
1962 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | ||||||||
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
8 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 |