Source: UNIPROT

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: rs137854456
rs137854456
FBN1
0.925 0.160 15 48487365 missense variant C/A;G;T snv 4.0E-06; 4.0E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 20 1993 2013
dbSNP: rs137854464
rs137854464
FBN1
0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 20 1993 2016
dbSNP: rs137854465
rs137854465
FBN1
0.925 0.160 15 48488230 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 20 1993 2013
dbSNP: rs137854472
rs137854472
FBN1
0.925 0.160 15 48488448 missense variant T/C snv 8.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 20 1993 2013
dbSNP: rs137854477
rs137854477
FBN1
0.925 0.160 15 48489979 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 20 1993 2013
dbSNP: rs111401431
rs111401431
FBN1
0.763 0.200 15 48468097 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 2017
dbSNP: rs111588631
rs111588631
FBN1
1.000 0.160 15 48428391 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 2017
dbSNP: rs111929350
rs111929350
FBN1
1.000 0.160 15 48452603 missense variant C/A;G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 2017
dbSNP: rs112375043
rs112375043
FBN1
0.925 0.160 15 48472594 stop gained G/A;C;T snv 3.6E-05 1.4E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 2017
dbSNP: rs112660651
rs112660651
FBN1
0.925 0.160 15 48610808 missense variant C/A;G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 2017
dbSNP: rs113544411
rs113544411
FBN1
0.925 0.160 15 48421652 stop gained G/A;C;T snv 1.2E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 10 1996 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 10 1996 2017
dbSNP: rs111984349
rs111984349
FBN1
0.763 0.200 15 48415759 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 1999 2014
dbSNP: rs112836174
rs112836174
FBN1
0.925 0.160 15 48430791 missense variant A/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 2002 2009
dbSNP: rs25403
rs25403
FBN1
0.882 0.200 15 48613073 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 0 2002 2016