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: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 8 1973 2017
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 1973 2015
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		0.700 0
dbSNP: rs193922185
rs193922185
FBN1
0.752 0.200 15 48505037 missense variant G/A snv
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.010 1.000 1 2017 2017