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
|
442 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | ||||||
Marfan Syndrome
|
997 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | ||||||
Acromicric Dysplasia
|
27 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Autistic Disorder
|
181 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Congenital clubfoot
|
35 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Congenital diaphragmatic hernia
|
21 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Congenital pectus carinatum
|
26 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Dysmorphic facies
|
106 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
24 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Exanthema
|
3 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Flexion contracture
|
32 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
GELEOPHYSIC DYSPLASIA 2
|
27 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
505 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Growth delay
|
40 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Heart murmur
|
10 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Hyperextensible thumb
|
2 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Joint laxity
|
15 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Long philtrum
|
16 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Malar flattening
|
12 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
MARFAN LIPODYSTROPHY SYNDROME
|
27 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Muscle hypotonia
|
579 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Nasal bridge wide
|
29 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
OVERLAP CONNECTIVE TISSUE DISEASE
|
26 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Relative macrocephaly
|
19 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Round ear
|
4 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 |