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: 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: rs137854856
rs137854856
LTBP2
3 0.882 0.240 14 74508727 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012
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: rs144453318
rs144453318
MMRN1
1 1.000 0.120 4 89953260 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs71530910
rs71530910
WFS1
3 0.882 0.360 4 6301680 missense variant C/T snv 1.2E-05 2.1E-05 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