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: rs137854459
rs137854459
1.000 0.160 15 48463977 missense variant A/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.800 1.000 30 1993 2017
dbSNP: rs137854474
rs137854474
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: rs140592
rs140592
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: rs363815
rs363815
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
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: rs137854465
rs137854465
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: rs111588631
rs111588631
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: rs112836174
rs112836174
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: rs137854456
rs137854456
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: rs111929350
rs111929350
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: rs112660651
rs112660651
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: rs137854469
rs137854469
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: rs141133182
rs141133182
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: rs137854458
rs137854458
1.000 0.160 15 48483910 missense variant C/G snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.800 1.000 30 1993 2017
dbSNP: rs137854457
rs137854457
0.925 0.160 15 48428423 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.800 1.000 30 1993 2017
dbSNP: rs137854460
rs137854460
0.925 0.160 15 48432943 missense variant C/G;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.800 1.000 30 1993 2017
dbSNP: rs140593
rs140593
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: rs137854470
rs137854470
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
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: rs137854475
rs137854475
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
dbSNP: rs137854478
rs137854478
0.851 0.160 15 48488233 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
0.810 1.000 30 1993 2017
dbSNP: rs137854482
rs137854482
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: rs140599
rs140599
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: rs363804
rs363804
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: rs137854464
rs137854464
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