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: rs1566910251
rs1566910251
FBN1
2 0.925 0.160 15 48489859 frameshift variant -/T ins 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: rs1566901570
rs1566901570
FBN1
2 0.925 0.160 15 48456636 splice donor variant CC/AA mnv 0.700 1.000 2 2007 2009
dbSNP: rs1566911331
rs1566911331
FBN1
2 0.925 0.160 15 48494203 splice donor variant CC/TT mnv 0.700 1.000 2 2007 2009
dbSNP: rs794728319
rs794728319
FBN1
4 0.851 0.160 15 48427731 frameshift variant AT/- del 0.700 1.000 5 2002 2016
dbSNP: rs1060501033
rs1060501033
FBN1
2 0.925 0.160 15 48411045 frameshift variant A/- del 0.700 1.000 3 2009 2015
dbSNP: rs1060501060
rs1060501060
FBN1
2 0.925 0.160 15 48425401 frameshift variant T/- del 0.700 1.000 2 2007 2009
dbSNP: rs1555401679
rs1555401679
FBN1
2 0.925 0.160 15 48537686 frameshift variant AG/- del 0.700 1.000 1 2015 2015
dbSNP: rs1566899541
rs1566899541
FBN1
2 0.925 0.160 15 48448826 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555394928
rs1555394928
FBN1
2 0.925 0.160 15 48432960 frameshift variant C/- del 0.700 0
dbSNP: rs1555395228
rs1555395228
FBN1
2 0.925 0.160 15 48437374 frameshift variant C/- del 0.700 0
dbSNP: rs1555396837
rs1555396837
FBN1
2 0.925 0.160 15 48463902 frameshift variant T/- del 0.700 0
dbSNP: rs1555396861
rs1555396861
FBN1
2 0.925 0.160 15 48463999 frameshift variant A/- del 0.700 0
dbSNP: rs1555397199
rs1555397199
FBN1
2 0.925 0.160 15 48468439 frameshift variant G/- del 0.700 0
dbSNP: rs1555397652
rs1555397652
FBN1
2 0.925 0.160 15 48474277 frameshift variant T/- del 0.700 0
dbSNP: rs1555398753
rs1555398753
FBN1
2 0.925 0.160 15 48489679 splice donor variant GACCAAACAGTTAAAAACAAAAAGTTCATACTTTTCTAAACAAAGATAATTATATAATTCAGAAAGCAAAAAGTCCATGCTGGGATGATCAAGTAGAGTGCTGAGATCATGAAAATGCATCCTATTTGTCTAAAAAGGGAGGCAATTGGCCATGGAAAACGTAACATTGTACCTTTGAAGAAAGGCTTTCCATT/- del 0.700 0
dbSNP: rs1555398832
rs1555398832
FBN1
2 0.925 0.160 15 48490040 frameshift variant CGTCCTC/- del 0.700 0
dbSNP: rs1559472349
rs1559472349
TGFBR2
1 1.000 3 30688433 frameshift variant CT/- del 0.700 0
dbSNP: rs1566906389
rs1566906389
FBN1
2 0.925 0.160 15 48474266 frameshift variant AAGCCATCACCTGTGTATCCTTC/- del 0.700 0
dbSNP: rs1566999621
rs1566999621
SMAD3
1 1.000 15 67181433 frameshift variant AGCTGACACGGAGA/- del 0.700 0
dbSNP: rs193922198
rs193922198
FBN1
3 0.882 0.160 15 48488383 frameshift variant C/- del 0.700 0
dbSNP: rs878854611
rs878854611
TGFBR2
1 1.000 3 30691424 frameshift variant T/- del 0.700 0
dbSNP: rs1555395483
rs1555395483
FBN1
2 0.925 0.160 15 48441828 inframe deletion GACACACTC/- delins 0.700 1.000 6 1973 2007
dbSNP: rs1566896070
rs1566896070
FBN1
2 0.925 0.160 15 48437016 inframe deletion CATCTGTATTGATGCACTGTCCATGTTTAC/- delins 0.700 1.000 4 2006 2009
dbSNP: rs1566888689
rs1566888689
FBN1
2 0.925 0.160 15 48411277 frameshift variant T/- delins 0.700 1.000 3 2009 2015