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 thoracic aortic aneurysm and aortic dissection
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | |||||||
Marfan Syndrome
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | |||||||
Acromicric Dysplasia
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Autistic Disorder
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Congenital clubfoot
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Congenital diaphragmatic hernia
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Congenital pectus carinatum
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Dysmorphic facies
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Exanthema
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Flexion contracture
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
GELEOPHYSIC DYSPLASIA 2
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Global developmental delay
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Growth delay
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Heart murmur
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Hyperextensible thumb
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Joint laxity
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Long philtrum
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Malar flattening
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
MARFAN LIPODYSTROPHY SYNDROME
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Muscle hypotonia
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Nasal bridge wide
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Relative macrocephaly
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
Round ear
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 |