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: rs200060005
rs200060005
FBN2
2 1.000 5 128338975 missense variant C/G;T snv 4.0E-06; 4.4E-05 0.700 1.000 1 2014 2014
dbSNP: rs149054177
rs149054177
FBN2
1 1.000 5 128335562 missense variant A/G snv 5.2E-05 2.9E-04 0.700 0
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.020 1.000 2 2007 2018