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: rs1555397194
rs1555397194
FBN1
2 0.925 0.160 15 48468409 splice donor variant -/A delins 0.700 1.000 1 2001 2001
dbSNP: rs1555394138
rs1555394138
FBN1
1 1.000 0.160 15 48420692 frameshift variant -/A delins 0.700 0
dbSNP: rs1555394151
rs1555394151
FBN1
1 1.000 0.160 15 48420776 frameshift variant -/A delins 0.700 0
dbSNP: rs1555394407
rs1555394407
FBN1
2 0.925 0.160 15 48425450 frameshift variant -/A delins 0.700 0
dbSNP: rs1555394925
rs1555394925
FBN1
1 1.000 0.160 15 48432948 frameshift variant -/A delins 0.700 0
dbSNP: rs1555395653
rs1555395653
FBN1
1 1.000 0.160 15 48444616 frameshift variant -/A delins 0.700 0
dbSNP: rs1555395670
rs1555395670
FBN1
1 1.000 0.160 15 48444658 frameshift variant -/A delins 0.700 0
dbSNP: rs1555395757
rs1555395757
FBN1
1 1.000 0.160 15 48445435 frameshift variant -/A delins 0.700 0
dbSNP: rs1555396199
rs1555396199
FBN1
1 1.000 0.160 15 48452607 frameshift variant -/A delins 0.700 0
dbSNP: rs1555399160
rs1555399160
FBN1
1 1.000 0.160 15 48495213 frameshift variant -/A delins 0.700 0
dbSNP: rs1555399379
rs1555399379
FBN1
2 0.925 0.160 15 48497345 frameshift variant -/A delins 0.700 0
dbSNP: rs1555404800
rs1555404800
FBN1
1 1.000 0.160 15 48596289 frameshift variant -/A delins 0.700 0
dbSNP: rs1555405042
rs1555405042
FBN1
2 0.925 0.160 15 48600174 frameshift variant -/A delins 0.700 0
dbSNP: rs1566909483
rs1566909483
FBN1
2 0.925 0.160 15 48487342 frameshift variant -/A delins 0.700 0
dbSNP: rs397515779
rs397515779
FBN1
1 1.000 0.160 15 48494240 frameshift variant -/A delins 0.700 0
dbSNP: rs397515867
rs397515867
FBN1
1 1.000 0.160 15 48526159 frameshift variant -/A delins 0.700 0
dbSNP: rs794728321
rs794728321
FBN1
1 1.000 0.160 15 48412640 frameshift variant -/A delins 0.700 0
dbSNP: rs869025426
rs869025426
FBN1
1 1.000 0.160 15 48463947 frameshift variant -/A delins 0.700 0
dbSNP: rs886043709
rs886043709
FBN1
2 0.925 0.160 15 48448844 frameshift variant -/AC delins 0.700 0
dbSNP: rs1555405664
rs1555405664
FBN1
1 1.000 0.160 15 48613053 inframe insertion -/ACA delins 0.700 0
dbSNP: rs1555398622
rs1555398622
FBN1
1 1.000 0.160 15 48488126 frameshift variant -/ATCA delins 0.700 0
dbSNP: rs193922225
rs193922225
FBN1
1 1.000 0.160 15 48434653 frameshift variant -/ATCA delins 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1566895225
rs1566895225
FBN1
1 1.000 0.160 15 48434596 frameshift variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1060501067
rs1060501067
FBN1
2 0.925 0.160 15 48415705 frameshift variant -/C delins 0.700 0
dbSNP: rs1555394206
rs1555394206
FBN1
1 1.000 0.160 15 48421648 frameshift variant -/C delins 0.700 0