Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140598
rs140598
FBN1
0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.030 1.000 3 1997 2001
dbSNP: rs140598
rs140598
FBN1
0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2011 2011
dbSNP: rs140598
rs140598
FBN1
0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 1.000 1 1997 1997
dbSNP: rs140598
rs140598
FBN1
0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 1997 1997
dbSNP: rs140598
rs140598
FBN1
0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0340629
Disease: Aortic aneurysm without mention of rupture NOS
Aortic aneurysm without mention of rupture NOS 		0.010 1.000 1 1997 1997