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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Apert syndrome
|
14 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.800 | 0.960 | 8 | 1995 | 2018 | |||||
Craniofacial dysostosis type 1
|
38 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.720 | 1.000 | 0 | 1997 | 2014 | |||||
Pfeiffer Syndrome
|
31 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.710 | 1.000 | 8 | 1995 | 2015 | |||||
Endometrial Carcinoma
|
99 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.710 | 1.000 | 0 | 2011 | 2011 | |||||
endometrial adenoacanthoma
|
12 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2012 | |||||
Endometrial Neoplasms
|
30 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
Acrocephalosyndactylia
|
1 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
Gastric Adenocarcinoma
|
220 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Malignant Uterine Corpus Neoplasm
|
152 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Uterine Carcinosarcoma
|
80 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Antley-Bixler Syndrome, Autosomal Dominant
|
10 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
BENT BONE DYSPLASIA SYNDROME
|
10 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
13 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
JACKSON-WEISS SYNDROME
|
15 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Lacrimoauriculodentodigital syndrome
|
32 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Saethre-Chotzen Syndrome
|
29 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
|
9 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Stomach Neoplasms
|
47 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 |