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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Familial Mediterranean Fever
|
82 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.900 | 0.988 | 81 | 1997 | 2020 | |||||
Ankylosing spondylitis
|
609 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.750 | 1.000 | 6 | 2010 | 2019 | |||||
Abnormality of the anterior fontanelle
|
3 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Autistic behavior
|
78 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Brachydactyly
|
43 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Central hypotonia
|
25 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Cryptorchidism
|
80 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Deep plantar creases
|
6 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Dysmorphic facies
|
106 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Familial Mediterranean Fever, Autosomal Dominant
|
9 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Generalized hypotonia
|
164 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Global developmental delay
|
553 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Impaired use of nonverbal behaviors
|
5 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Large head (disorder)
|
116 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Leukoaraiosis
|
24 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Microcephaly (physical finding)
|
246 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Profound global developmental delay
|
20 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Seizures
|
553 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Stereotypic Movement Disorder
|
26 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Synophrys
|
23 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | ||||||||
Amyloidosis
|
93 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.100 | 0.931 | 29 | 1998 | 2018 | |||||
Arthritis
|
69 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.100 | 1.000 | 14 | 1999 | 2019 | |||||
Amyloid nephropathy
|
7 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.060 | 1.000 | 6 | 1999 | 2013 | |||||
Behcet Syndrome
|
243 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.040 | 1.000 | 4 | 2000 | 2015 | |||||
AA amyloidosis
|
10 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.030 | 0.667 | 3 | 2004 | 2017 |