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
|
24 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.800 | 0.960 | 25 | 1995 | 2018 | |||||
Craniofacial dysostosis type 1
|
52 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.720 | 1.000 | 2 | 1997 | 2014 | |||||
Pfeiffer Syndrome
|
36 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.710 | 1.000 | 9 | 1995 | 2015 | |||||
Endometrial Carcinoma
|
326 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.710 | 1.000 | 1 | 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
|
32 | 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
|
235 | 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
|
13 | 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
|
16 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
JACKSON-WEISS SYNDROME
|
20 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Lacrimoauriculodentodigital syndrome
|
33 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Saethre-Chotzen Syndrome
|
33 | 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
|
55 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
Craniosynostosis
|
90 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2017 | |||||
Syndactyly
|
26 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.030 | 1.000 | 3 | 1998 | 2004 | |||||
Abnormality of the skull
|
11 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
Cleft Palate
|
158 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2013 | |||||
Cleft palate, isolated
|
70 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2013 | |||||
Craniofacial Dysostosis
|
29 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 1997 | 2014 | |||||
Uranostaphyloschisis
|
75 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2013 |