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: rs727503056
rs727503056
FBN1
1 1.000 0.160 15 48467967 frameshift variant GTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTTGGA/- delins 0.700 1.000 2 2002 2003
dbSNP: rs121434358
rs121434358
ADAMTS10
3 0.882 0.240 19 8605638 missense variant C/T snv 3.2E-05 2.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs1441536824
rs1441536824
FBN1
2 0.925 0.240 15 48513551 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs769194347
rs769194347
ADAMTSL4 ; ADAMTSL4-AS2
2 0.925 0.240 1 150556630 missense variant G/A snv 1.2E-05 0.010 1.000 1 2014 2014