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: rs1085307185
rs1085307185
BMPR2
2 0.925 0.040 2 202464978 missense variant A/C snv 0.700 0
dbSNP: rs1085307354
rs1085307354
BMPR2
2 0.925 0.040 2 202552749 missense variant T/C snv 0.700 0
dbSNP: rs137852742
rs137852742
BMPR2
2 0.925 0.080 2 202464950 stop gained C/G;T snv 0.700 0
dbSNP: rs1553508321
rs1553508321
BMPR2
1 1.000 0.040 2 202514980 splice donor variant G/T snv 0.700 0
dbSNP: rs1553509983
rs1553509983
BMPR2
1 1.000 0.040 2 202532596 frameshift variant -/GA delins 0.700 0
dbSNP: rs1553509984
rs1553509984
BMPR2
1 1.000 0.040 2 202532604 frameshift variant T/- del 0.700 0
dbSNP: rs1559073178
rs1559073178
BMPR2
1 1.000 0.040 2 202552814 frameshift variant -/A delins 0.700 0
dbSNP: rs398123039
rs398123039
KCNK3
2 0.925 0.040 2 26727991 missense variant G/A snv 0.700 0
dbSNP: rs483352902
rs483352902
BMPR2
2 0.925 0.040 2 202377517 frameshift variant C/- delins 0.700 0
dbSNP: rs878854272
rs878854272
BMPR2
1 1.000 0.040 2 202530951 splice donor variant CGAGGTGAGTGTATACAAAA/- del 0.700 0
dbSNP: rs886039220
rs886039220
BMPR2
1 1.000 0.040 2 202542301 intron variant -/GGG ins 0.700 0
dbSNP: rs886039221
rs886039221
BMPR2
1 1.000 0.040 2 202552743 inframe deletion AGA/- delins 0.700 0
dbSNP: rs886039223
rs886039223
BMPR2
1 1.000 0.040 2 202464903 frameshift variant -/AT delins 0.700 0
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: 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
dbSNP: rs1085307364
rs1085307364
BMPR2
1 1.000 0.040 2 202552837 missense variant A/C snv 0.800 1.000 9 2000 2017
dbSNP: rs137852745
rs137852745
BMPR2
2 0.925 0.080 2 202552756 missense variant A/G snv 0.800 1.000 9 2000 2017