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: rs1085307172
rs1085307172
BMPR2
1 1.000 0.040 2 202464911 missense variant G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1085307219
rs1085307219
BMPR2
1 1.000 0.040 2 202467626 frameshift variant A/- del 0.700 1.000 1 2000 2000
dbSNP: rs1085307238
rs1085307238
BMPR2
1 1.000 0.040 2 202513807 stop gained CTTT/AAA delins 0.700 1.000 1 2000 2000
dbSNP: rs1085307253
rs1085307253
BMPR2
3 0.882 0.080 2 202518890 frameshift variant AG/T delins 0.700 1.000 1 2000 2000
dbSNP: rs1085307257
rs1085307257
BMPR2
1 1.000 0.040 2 202518984 frameshift variant -/T delins 0.700 1.000 1 2000 2000
dbSNP: rs1085307381
rs1085307381
BMPR2
1 1.000 0.040 2 202556051 frameshift variant G/- del 0.700 1.000 1 2000 2000
dbSNP: rs1553509997
rs1553509997
BMPR2
2 0.925 0.080 2 202532698 frameshift variant -/GA delins 0.700 1.000 1 2000 2000
dbSNP: rs1085307169
rs1085307169
BMPR2
2 0.925 0.080 2 202464884 frameshift variant TC/- delins 0.700 1.000 1 2001 2001
dbSNP: rs1085307237
rs1085307237
BMPR2
1 1.000 0.040 2 202513801 frameshift variant -/T delins 0.700 1.000 1 2001 2001
dbSNP: rs1085307251
rs1085307251
BMPR2
1 1.000 0.040 2 202518887 frameshift variant AA/- delins 0.700 1.000 1 2001 2001
dbSNP: rs1085307278
rs1085307278
BMPR2
2 0.925 0.080 2 202520204 splice region variant A/- delins 0.700 1.000 1 2001 2001
dbSNP: rs1085307294
rs1085307294
BMPR2
1 1.000 0.040 2 202530902 frameshift variant C/- del 0.700 1.000 1 2001 2001