Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1566898828
rs1566898828
FBN1
2 0.925 0.160 15 48446803 frameshift variant TTTC/- delins 0.700 0
dbSNP: rs1566898852
rs1566898852
FBN1
2 0.925 0.160 15 48446820 splice acceptor variant TGTCT/AGTCA mnv 0.700 1.000 2 2007 2009
dbSNP: rs1555399095
rs1555399095
FBN1
2 0.925 0.160 15 48494240 frameshift variant TACCACATATG/GGTAAA delins 0.700 0
dbSNP: rs1567002059
rs1567002059
SMAD3
1 1.000 15 67184815 frameshift variant TAACCAGCGCTAT/GACACC delins 0.700 0
dbSNP: rs1555398276
rs1555398276
FBN1
2 0.925 0.160 15 48483857 frameshift variant TAACACA/- delins 0.700 0
dbSNP: rs778966916
rs778966916
FBN1
2 0.925 0.160 15 48468107 splice region variant T/C;G snv 8.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs886041482
rs886041482
FBN1
2 0.925 0.160 15 48437079 splice acceptor variant T/C;G snv 0.700 1.000 2 2007 2009
dbSNP: rs1555397216
rs1555397216
FBN1
2 0.925 0.160 15 48468534 missense variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs886039176
rs886039176
TGFBR1
1 1.000 9 99149250 missense variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1555393532
rs1555393532
FBN1
2 0.925 0.160 15 48411159 missense variant T/C;G snv 0.700 0
dbSNP: rs1555398995
rs1555398995
FBN1
2 0.925 0.160 15 48492577 missense variant T/C;G snv 0.700 0
dbSNP: rs201854371
rs201854371
FBN1
2 0.925 0.160 15 48613007 splice region variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs112196241
rs112196241
FBN1
2 0.925 0.160 15 48415605 missense variant T/C snv 0.700 1.000 6 1973 2009
dbSNP: rs1346043320
rs1346043320
FBN1
2 0.925 0.160 15 48445408 missense variant T/C snv 0.700 1.000 6 1973 2016
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 1.000 6 1993 2007
dbSNP: rs1555394437
rs1555394437
FBN1
2 0.925 0.160 15 48425771 missense variant T/C snv 0.700 1.000 6 1973 2015
dbSNP: rs1555398625
rs1555398625
FBN1
2 0.925 0.160 15 48488148 missense variant T/C snv 0.700 1.000 3 2002 2006
dbSNP: rs140597
rs140597
FBN1
2 0.925 0.160 15 48487437 missense variant T/C snv 0.700 1.000 2 2007 2017
dbSNP: rs1555399816
rs1555399816
FBN1
2 0.925 0.160 15 48505081 missense variant T/C snv 0.700 1.000 2 2005 2008
dbSNP: rs1060501029
rs1060501029
FBN1
2 0.925 0.160 15 48446909 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1060501087
rs1060501087
FBN1
2 0.925 0.160 15 48446774 missense variant T/C snv 0.700 0
dbSNP: rs1060501093
rs1060501093
FBN1
2 0.925 0.160 15 48425491 missense variant T/C snv 0.700 0
dbSNP: rs1555397008
rs1555397008
FBN1
2 0.925 0.160 15 48465695 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555459260
rs1555459260
MYH11
2 0.925 0.040 16 15838252 start lost T/C snv 0.700 0
dbSNP: rs1566900540
rs1566900540
FBN1
1 1.000 15 48452686 splice acceptor variant T/C snv 0.700 0