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: 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 30 1993 2017
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 30 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 30 1993 2017
dbSNP: rs137854471
rs137854471
FBN1
0.925 0.160 15 48483931 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 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 30 1993 2017
dbSNP: rs137854480
rs137854480
FBN1
0.742 0.200 15 48537629 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 1993 2019
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 30 1993 2017
dbSNP: rs140592
rs140592
FBN1
0.925 0.160 15 48489947 missense variant A/G snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 1993 2017
dbSNP: rs140593
rs140593
FBN1
0.925 0.160 15 48489896 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 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 30 1993 2017
dbSNP: rs140603
rs140603
FBN1
0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 1993 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 30 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 30 1993 2017
dbSNP: rs363853
rs363853
FBN1
1.000 0.160 15 48596292 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 30 1993 2017
dbSNP: rs137854475
rs137854475
FBN1
0.882 0.200 15 48487155 missense variant C/T snv 1.3E-03 1.6E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 30 1993 2017