Gene: FBN1 ×
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: rs397515866
rs397515866
FBN1
1 1.000 0.160 15 48411000 frameshift variant AA/- delins 0.700 0
dbSNP: rs397515865
rs397515865
FBN1
1 1.000 0.160 15 48411006 missense variant T/G snv 0.700 0
dbSNP: rs1060501033
rs1060501033
FBN1
2 0.925 0.160 15 48411045 frameshift variant A/- del 0.700 1.000 3 2009 2015
dbSNP: rs794728323
rs794728323
FBN1
1 1.000 0.160 15 48411062 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs1555393508
rs1555393508
FBN1
1 1.000 0.160 15 48411070 stop gained C/A;T snv 0.700 0
dbSNP: rs1555393510
rs1555393510
FBN1
1 1.000 0.160 15 48411076 stop gained G/A snv 0.700 0
dbSNP: rs1064794130
rs1064794130
FBN1
1 1.000 0.160 15 48411077 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs587782948
rs587782948
FBN1
1 1.000 0.160 15 48411085 stop gained C/A snv 0.700 1.000 1 2011 2011
dbSNP: rs886038795
rs886038795
FBN1
2 0.925 0.160 15 48411118 stop gained G/A snv 0.700 1.000 3 2009 2015
dbSNP: rs397515864
rs397515864
FBN1
1 1.000 0.160 15 48411123 stop gained G/C snv 0.700 0
dbSNP: rs1555393525
rs1555393525
FBN1
1 1.000 0.160 15 48411127 frameshift variant A/- del 0.700 0
dbSNP: rs727504454
rs727504454
FBN1
1 1.000 0.160 15 48411131 inframe deletion TCC/- del 0.700 0
dbSNP: rs1555393532
rs1555393532
FBN1
2 0.925 0.160 15 48411159 missense variant T/C;G snv 0.700 0
dbSNP: rs1555393538
rs1555393538
FBN1
1 1.000 0.160 15 48411189 frameshift variant -/T delins 0.700 0
dbSNP: rs193922246
rs193922246
FBN1
1 1.000 0.160 15 48411189 inframe deletion TTTTAA/- delins 0.700 0
dbSNP: rs869025417
rs869025417
FBN1
1 1.000 0.160 15 48411267 missense variant A/G snv 0.700 1.000 1 2002 2002
dbSNP: rs1555393551
rs1555393551
FBN1
2 0.925 0.160 15 48411271 stop gained C/A snv 0.700 1.000 3 2009 2015
dbSNP: rs1566888689
rs1566888689
FBN1
2 0.925 0.160 15 48411277 frameshift variant T/- delins 0.700 1.000 3 2009 2015
dbSNP: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 1.000 3 1994 2002
dbSNP: rs267606796
rs267606796
FBN1
1 1.000 0.160 15 48411338 stop gained C/T snv 0.700 0
dbSNP: rs397515861
rs397515861
FBN1
1 1.000 0.160 15 48411339 stop gained C/T snv 0.700 1.000 1 1992 1992
dbSNP: rs727504651
rs727504651
FBN1
1 1.000 0.160 15 48411340 frameshift variant AA/TCCT delins 0.700 0
dbSNP: rs1555393565
rs1555393565
FBN1
1 1.000 0.160 15 48411352 frameshift variant -/CA delins 0.700 0
dbSNP: rs193922243
rs193922243
FBN1
2 0.925 0.160 15 48412564 splice region variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs398122833
rs398122833
FBN1
3 0.882 0.160 15 48412568 splice donor variant C/A;T snv 0.700 1.000 2 2011 2014