Source: CLINVAR

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: rs137854458
rs137854458
FBN1
1.000 0.160 15 48483910 missense variant C/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs137854459
rs137854459
FBN1
1.000 0.160 15 48463977 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs137854463
rs137854463
FBN1
1.000 0.160 15 48497391 missense variant T/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs137854464
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 1.000 0 1994 2007
dbSNP: rs137854469
rs137854469
FBN1
1.000 0.160 15 48485418 missense variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs137854470
rs137854470
FBN1
1.000 0.160 15 48487425 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs137854474
rs137854474
FBN1
1.000 0.160 15 48483863 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs137854480
rs137854480
FBN1
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.800 1.000 0 1994 2012
dbSNP: rs137854482
rs137854482
FBN1
1.000 0.160 15 48487389 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs140599
rs140599
FBN1
0.925 0.160 15 48487317 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs141133182
rs141133182
FBN1
1.000 0.160 15 48415735 stop gained C/A;T snv 2.1E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1996 2017
dbSNP: rs363804
rs363804
FBN1
1.000 0.160 15 48441771 missense variant C/T snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
dbSNP: rs363815
rs363815
FBN1
1.000 0.160 15 48437370 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1993 2017
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 7 1973 2017
dbSNP: rs397515812
rs397515812
FBN1
0.925 0.160 15 48468427 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 5 2000 2015
dbSNP: rs794728334
rs794728334
FBN1
0.763 0.200 15 48437069 stop gained C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 1 2019 2019
dbSNP: rs113393517
rs113393517
FBN1
1.000 0.160 15 48481660 missense variant C/A;G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 0 2000 2000
dbSNP: rs113422242
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 0 2000 2000
dbSNP: rs137854478
rs137854478
FBN1
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		0.710 1.000 0 2017 2017
dbSNP: rs794728249
rs794728249
FBN1
0.925 0.160 15 48437039 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.710 1.000 0 2010 2010
dbSNP: rs113001196
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 29 1986 2016
dbSNP: rs113001196
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs113001196
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs1555393647
rs1555393647
FBN1
1.000 15 48412588 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 29 1986 2016