Source: ALL
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.
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
1 0.752 0.280 10 88941309 missense variant C/T snv 0.800 1.000 6 2010 2013
MOYAMOYA DISEASE 5
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
3 0.752 0.280 10 88941309 missense variant C/T snv 0.800 1.000 1 2011 2011
Aortic Aneurysm, Familial Thoracic 6
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
16 0.752 0.280 10 88941309 missense variant C/T snv 0.700 1.000 9 2010 2015
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.752 0.280 10 88941309 missense variant C/T snv 0.700 1.000 5 2009 2013
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
24 0.752 0.280 10 88941309 missense variant C/T snv 0.700 0
Arteriopathic disease
CUI: C0852949
Disease: Arteriopathic disease
14 0.752 0.280 10 88941309 missense variant C/T snv 0.020 1.000 2 2013 2014
Cerebrovascular Disorders
CUI: C0007820
Disease: Cerebrovascular Disorders
56 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2015 2015
Fetal megacystis
CUI: C2931117
Disease: Fetal megacystis
4 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2012 2012
Moyamoya Disease
CUI: C0026654
Disease: Moyamoya Disease
50 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2011 2011
Moyamoya disease 1
CUI: C2931384
Disease: Moyamoya disease 1
50 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2011 2011
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2013 2013
Patent ductus arteriosus - persisting type
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
10 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2013 2013
Prune Belly Syndrome
CUI: C0033770
Disease: Prune Belly Syndrome
2 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2012 2012
Skin Manifestations
CUI: C0037285
Disease: Skin Manifestations
5 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2012 2012