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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
74 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Cardiomyopathy, Familial Idiopathic
|
243 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Charcot-Marie-Tooth disease, Type 2B1
|
6 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Emery-Dreifuss Muscular Dystrophy 3
|
4 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Heart-hand syndrome, Slovenian type
|
3 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Lethal tight skin contracture syndrome (disorder)
|
10 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Malouf syndrome
|
4 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Mandibuloacral dysostosis
|
16 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
|
19 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Progeria
|
41 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
2 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Hyperlipidemia
|
83 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Hypertriglyceridemia
|
169 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Muscular Dystrophy, Emery-Dreifuss
|
18 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
Myocardial Infarction
|
680 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Polycystic Ovary Syndrome
|
363 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Pulmonary Fibrosis
|
25 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Diabetes
|
710 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2015 | ||||||
Diabetes Mellitus
|
824 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2015 | ||||||
Dyslipidemias
|
184 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2000 | ||||||
Hypertensive disease
|
1085 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2013 | ||||||
Hyperinsulinism
|
64 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2000 | 2000 | ||||||
Hereditary Motor and Sensory-Neuropathy Type II
|
144 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||
Partial lipodystrophy
|
11 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.040 | 1.000 | 4 | 2000 | 2003 | ||||||
Lipodystrophy
|
28 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2000 | 2018 |