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: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs2236416
rs2236416
MMP9
2 1.000 0.120 20 46011936 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3787268
rs3787268
MMP9 ; SLC12A5-AS1
5 0.851 0.240 20 46013092 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3918254
rs3918254
MMP9
4 0.851 0.200 20 46011752 splice region variant C/T snv 3.0E-02 2.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2015 2015