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: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.820 1.000 36 1993 2017
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 6 1993 2007
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.700 0
dbSNP: rs137854461
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.700 0