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: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
3 0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins 0.700 1.000 4 2010 2017
dbSNP: rs1057518883
rs1057518883
FBN1
7 0.851 0.240 15 48415571 missense variant A/C snv 0.700 0
dbSNP: rs1057518973
rs1057518973
FBN1
3 0.925 0.120 15 48596343 missense variant A/C;G snv 0.700 0
dbSNP: rs1555395001
rs1555395001
FBN1
8 0.807 0.200 15 48434600 missense variant A/G snv 0.700 0
dbSNP: rs1566913974
rs1566913974
FBN1
8 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
dbSNP: rs193922219
rs193922219
FBN1
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs727503057
rs727503057
FBN1
16 0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs137854480
rs137854480
FBN1
11 0.742 0.200 15 48537629 missense variant G/A snv 0.020 1.000 2 2004 2007
dbSNP: rs118203985
rs118203985
ADAMTSL4 ; ADAMTSL4-AS2
2 0.925 0.080 1 150556974 stop gained T/A;G snv 4.0E-06; 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs1204846773
rs1204846773
RET
1 1.000 0.080 10 43113581 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121918355
rs121918355
LTBP2
7 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
dbSNP: rs137854464
rs137854464
FBN1
5 0.851 0.200 15 48425483 missense variant C/T snv 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs137854467
rs137854467
FBN1
7 0.790 0.280 15 48600217 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs137854479
rs137854479
FBN1
2 0.925 0.200 15 48497298 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs193922185
rs193922185
FBN1
10 0.752 0.200 15 48505037 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs730880099
rs730880099
FBN1
11 0.742 0.200 15 48510125 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs778345588
rs778345588
ADAMTSL4 ; ADAMTSL4-AS2
1 1.000 0.080 1 150558021 stop gained C/T snv 4.1E-06 0.010 1.000 1 2013 2013