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: rs1085307426
rs1085307426
ACVRL1
2 0.925 0.160 12 51920817 missense variant G/A;C snv 0.700 1.000 2 2008 2009
dbSNP: rs1085307410
rs1085307410
ACVRL1
2 0.925 0.160 12 51915305 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1085307411
rs1085307411
ACVRL1
1 1.000 0.040 12 51915306 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1085307412
rs1085307412
ACVRL1
1 1.000 0.040 12 51915388 missense variant C/G snv 0.700 1.000 1 2008 2008
dbSNP: rs1085307413
rs1085307413
ACVRL1
1 1.000 0.040 12 51915402 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1085307414
rs1085307414
ACVRL1
2 0.925 0.160 12 51915407 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1085307417
rs1085307417
ACVRL1
1 1.000 0.040 12 51916129 missense variant T/C snv 0.700 1.000 1 2008 2008
dbSNP: rs1085307419
rs1085307419
ACVRL1
2 0.925 0.160 12 51919008 missense variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1085307425
rs1085307425
ACVRL1
1 1.000 0.040 12 51920814 missense variant C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs121909288
rs121909288
ACVRL1
4 0.851 0.160 12 51920831 missense variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs758683062
rs758683062
ACVRL1
2 0.925 0.160 12 51913675 stop gained C/T snv 4.1E-06 0.700 1.000 1 2009 2009
dbSNP: rs1085307436
rs1085307436
ENG ; LOC102723566
1 1.000 0.040 9 127815806 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs142896669
rs142896669
ENG ; LOC102723566
1 1.000 0.040 9 127818173 missense variant C/T snv 5.2E-04 3.6E-04 0.700 1.000 1 2013 2013
dbSNP: rs150932144
rs150932144
ENG ; LOC105379841
1 1.000 0.040 9 127825744 missense variant C/T snv 9.6E-05 3.4E-04 0.700 1.000 1 2013 2013
dbSNP: rs137852746
rs137852746
BMPR2
3 0.882 0.080 2 202552773 missense variant C/T snv 0.800 1.000 18 2000 2017
dbSNP: rs137852749
rs137852749
BMPR2
3 0.882 0.080 2 202552774 missense variant G/A snv 0.800 1.000 15 2000 2017
dbSNP: rs1085307215
rs1085307215
BMPR2
1 1.000 0.040 2 202467621 missense variant G/A;C snv 0.800 1.000 12 2000 2017
dbSNP: rs137852741
rs137852741
BMPR2
7 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.700 1.000 12 2000 2015
dbSNP: rs137852750
rs137852750
BMPR2
2 0.925 0.080 2 202467638 missense variant T/A;C snv 0.800 1.000 11 2000 2017
dbSNP: rs869025366
rs869025366
BMPR2
2 0.925 0.080 2 202513739 stop gained C/T snv 4.0E-06 0.700 1.000 11 2001 2015
dbSNP: rs1085307324
rs1085307324
BMPR2
1 1.000 0.040 2 202532714 missense variant T/C snv 0.800 1.000 10 2000 2017
dbSNP: rs1085307365
rs1085307365
BMPR2
1 1.000 0.040 2 202552859 missense variant T/A snv 0.800 1.000 10 2000 2017
dbSNP: rs137852743
rs137852743
BMPR2
1 1.000 0.040 2 202467625 missense variant T/G snv 0.800 1.000 10 2000 2017
dbSNP: rs137852744
rs137852744
BMPR2
1 1.000 0.040 2 202530866 missense variant G/A snv 0.800 1.000 10 2000 2017
dbSNP: rs137852752
rs137852752
BMPR2
1 1.000 0.040 2 202556361 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.800 1.000 10 2000 2017