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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
9 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
CATSHL syndrome
|
10 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Cervix carcinoma
|
283 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Colorectal Carcinoma
|
1962 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
8 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Lacrimoauriculodentodigital syndrome
|
33 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Malignant neoplasm of testis
|
31 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Malignant neoplasm of urinary bladder
|
316 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Muenke Syndrome
|
11 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Short stature
|
292 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Thanatophoric dysplasia, type 2
|
17 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
Macrocephaly
|
10 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
Dwarfism
|
77 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.020 | 0.500 | 2 | 1998 | 1998 | |||||
Osteochondrodysplasias
|
26 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
Skeletal dysplasia
|
65 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
Thanatophoric Dysplasia
|
10 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
18 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||
Complete Trisomy 21 Syndrome
|
77 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Down Syndrome
|
80 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
growth hormone treatment
|
1 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
Hereditary Coproporphyria
|
11 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
Craniosynostosis
|
90 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 1.000 | 9 | 1995 | 2014 | |||||
Epilepsies, Partial
|
23 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
Focal dysplasia
|
1 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |