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: rs1555394407
rs1555394407
FBN1
2 0.925 0.160 15 48425450 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: 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: rs794728315
rs794728315
FBN1
1 1.000 15 48441718 splice donor variant -/A delins 8.0E-06 1.4E-05 0.700 0
dbSNP: rs794728677
rs794728677
MYH11 ; NDE1
1 1.000 16 15721419 splice donor 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: rs794728306
rs794728306
FBN1
1 1.000 15 48487347 frameshift variant -/AGGC delins 4.0E-06 0.700 0
dbSNP: rs863223754
rs863223754
SMAD3
1 1.000 15 67184843 frameshift variant -/C delins 0.700 1.000 2 2011 2014
dbSNP: rs1060501067
rs1060501067
FBN1
2 0.925 0.160 15 48415705 frameshift variant -/C delins 0.700 0
dbSNP: rs1566903283
rs1566903283
FBN1
2 0.925 0.160 15 48463219 coding sequence variant -/CACAAACTTCTTCTCATATCTAGAAGGGAG delins 0.700 0
dbSNP: rs794728305
rs794728305
FBN1
1 1.000 15 48492525 stop gained -/CTAG delins 0.700 0
dbSNP: rs1555393516
rs1555393516
FBN1
2 0.925 0.040 15 48411101 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: rs1555405528
rs1555405528
FBN1
2 0.925 0.160 15 48610737 frameshift variant -/G delins 0.700 0
dbSNP: rs1555412069
rs1555412069
SMAD3
1 1.000 15 67164930 frameshift variant -/G delins 0.700 0
dbSNP: rs1566999423
rs1566999423
SMAD3
1 1.000 15 67181318 frameshift variant -/GACA delins 0.700 1.000 1 2019 2019
dbSNP: rs1555397733
rs1555397733
FBN1
2 0.925 0.160 15 48474611 frameshift variant -/GAGTTGTGTGCCA delins 0.700 0
dbSNP: rs1555412070
rs1555412070
SMAD3
1 1.000 15 67164933 frameshift variant -/GC delins 0.700 0
dbSNP: rs1060500770
rs1060500770
SMAD3
1 1.000 15 67184755 frameshift variant -/GG delins 0.700 0
dbSNP: rs1566918075
rs1566918075
FBN1
2 0.925 0.160 15 48520795 stop gained -/T delins 0.700 1.000 2 2000 2010
dbSNP: rs1555400274
rs1555400274
FBN1
2 0.925 0.160 15 48513566 frameshift variant -/T delins 0.700 1.000 1 2009 2009