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: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 13 1995 2014
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 1995 2009
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0