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: rs1052480459
rs1052480459
FBN1
2 0.925 0.160 15 48437837 stop gained C/A;G snv 7.0E-06 0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
6 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 1.000 7 2006 2017
dbSNP: rs1057518912
rs1057518912
FBN1
1 1.000 0.160 15 48456643 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519320
rs1057519320
FBN1
7 0.807 0.160 15 48444574 missense variant G/A snv 0.700 0
dbSNP: rs1057519502
rs1057519502
FBN1
1 1.000 0.160 15 48495237 stop gained G/A snv 0.700 0
dbSNP: rs1057520131
rs1057520131
FBN1
2 0.925 0.240 15 48508633 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1057520617
rs1057520617
FBN1
1 1.000 0.160 15 48430770 missense variant A/G snv 0.700 0
dbSNP: rs1057520728
rs1057520728
FBN1
1 1.000 0.160 15 48422057 missense variant A/C;G snv 0.700 0
dbSNP: rs1057521102
rs1057521102
FBN1
2 0.925 0.160 15 48510088 missense variant C/A;T snv 0.700 1.000 5 2006 2009
dbSNP: rs1057523406
rs1057523406
FBN1
2 0.925 0.160 15 48494209 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057524458
rs1057524458
FBN1
2 0.925 0.160 15 48489988 missense variant C/G snv 0.700 1.000 4 2000 2016
dbSNP: rs1060501013
rs1060501013
FBN1
1 1.000 0.160 15 48488410 frameshift variant C/- del 0.700 0
dbSNP: rs1060501014
rs1060501014
FBN1
1 1.000 0.160 15 48415567 missense variant A/G snv 0.700 0
dbSNP: rs1060501016
rs1060501016
FBN1
1 1.000 0.160 15 48428395 stop gained A/T snv 0.700 0
dbSNP: rs1060501017
rs1060501017
FBN1
2 0.925 0.160 15 48505136 missense variant A/C;G snv 0.700 1.000 6 2006 2017
dbSNP: rs1060501019
rs1060501019
FBN1
1 1.000 0.160 15 48534131 missense variant A/C snv 0.700 0
dbSNP: rs1060501021
rs1060501021
FBN1
2 0.925 0.160 15 48494210 missense variant A/G snv 0.700 1.000 8 2002 2015
dbSNP: rs1060501022
rs1060501022
FBN1
2 0.925 0.160 15 48496214 missense variant A/G snv 0.700 0
dbSNP: rs1060501023
rs1060501023
FBN1
2 0.925 0.160 15 48430758 stop gained G/A snv 0.700 1.000 1 1995 1995
dbSNP: rs1060501024
rs1060501024
FBN1
1 1.000 0.160 15 48503820 stop gained C/A snv 0.700 0
dbSNP: rs1060501026
rs1060501026
FBN1
1 1.000 0.160 15 48474299 missense variant C/G snv 0.700 0
dbSNP: rs1060501027
rs1060501027
FBN1
1 1.000 0.160 15 48503871 frameshift variant -/T ins 0.700 0
dbSNP: rs1060501029
rs1060501029
FBN1
2 0.925 0.160 15 48446909 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1060501031
rs1060501031
FBN1
1 1.000 0.160 15 48463212 frameshift variant G/- del 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