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: rs1555394559
rs1555394559
FBN1
1 1.000 0.160 15 48427579 frameshift variant -/C delins 0.700 0
dbSNP: rs1555394631
rs1555394631
FBN1
1 1.000 0.160 15 48428410 frameshift variant -/C delins 0.700 0
dbSNP: rs1555397743
rs1555397743
FBN1
1 1.000 0.160 15 48474641 frameshift variant -/C delins 0.700 0
dbSNP: rs1555399204
rs1555399204
FBN1
1 1.000 0.160 15 48495540 frameshift variant -/C ins 0.700 0
dbSNP: rs730880356
rs730880356
FBN1
1 1.000 0.160 15 48515519 frameshift variant -/C delins 0.700 0
dbSNP: rs1555393565
rs1555393565
FBN1
1 1.000 0.160 15 48411352 frameshift variant -/CA delins 0.700 0
dbSNP: rs1566903283
rs1566903283
FBN1
2 0.925 0.160 15 48463219 coding sequence variant -/CACAAACTTCTTCTCATATCTAGAAGGGAG delins 0.700 0
dbSNP: rs1555399093
rs1555399093
FBN1
1 1.000 0.160 15 48494233 frameshift variant -/CC ins 0.700 0
dbSNP: rs1555397420
rs1555397420
FBN1
1 1.000 0.160 15 48470743 stop gained -/CTCA delins 0.700 0
dbSNP: rs1555393848
rs1555393848
FBN1
1 1.000 0.160 15 48415612 frameshift variant -/G delins 0.700 0
dbSNP: rs1555395209
rs1555395209
FBN1
3 0.882 0.160 15 48437054 frameshift variant -/G delins 0.700 0
dbSNP: rs1555396760
rs1555396760
FBN1
2 0.925 0.160 15 48463102 frameshift variant -/G delins 0.700 0
dbSNP: rs1555398137
rs1555398137
FBN1
2 0.925 0.160 15 48481656 frameshift variant -/G delins 0.700 0
dbSNP: rs1555398508
rs1555398508
FBN1
1 1.000 0.160 15 48487104 frameshift variant -/G delins 0.700 0
dbSNP: rs1555405528
rs1555405528
FBN1
2 0.925 0.160 15 48610737 frameshift variant -/G delins 0.700 0
dbSNP: rs1555397733
rs1555397733
FBN1
2 0.925 0.160 15 48474611 frameshift variant -/GAGTTGTGTGCCA delins 0.700 0
dbSNP: rs1555396202
rs1555396202
FBN1
1 1.000 0.160 15 48452623 frameshift variant -/GCAGTGTTGATGCA delins 0.700 0
dbSNP: rs193922181
rs193922181
FBN1
1 1.000 0.160 15 48510080 inframe insertion -/GCATTACAC delins 0.700 0
dbSNP: rs1555394779
rs1555394779
FBN1
1 1.000 0.160 15 48430770 frameshift variant -/GT delins 0.700 0
dbSNP: rs1555400274
rs1555400274
FBN1
2 0.925 0.160 15 48513566 frameshift variant -/T delins 0.700 1.000 2 2009 2019
dbSNP: rs1566918075
rs1566918075
FBN1
2 0.925 0.160 15 48520795 stop gained -/T delins 0.700 1.000 2 2000 2010
dbSNP: rs1060501027
rs1060501027
FBN1
1 1.000 0.160 15 48503871 frameshift variant -/T ins 0.700 0
dbSNP: rs1060501042
rs1060501042
FBN1
1 1.000 0.160 15 48421606 frameshift variant -/T ins 0.700 0
dbSNP: rs1555393538
rs1555393538
FBN1
1 1.000 0.160 15 48411189 frameshift variant -/T delins 0.700 0
dbSNP: rs1555393653
rs1555393653
FBN1
1 1.000 0.160 15 48412646 frameshift variant -/T ins 0.700 0