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: rs137852751
rs137852751
BMPR2
2 0.925 0.080 2 202530820 stop gained C/T snv 0.700 1.000 9 2000 2015
dbSNP: rs137852754
rs137852754
BMPR2
1 1.000 0.040 2 202514903 missense variant G/A snv 1.4E-04 1.6E-04 0.700 1.000 9 2000 2017
dbSNP: rs767882551
rs767882551
BMPR2
1 1.000 0.040 2 202530847 missense variant G/A snv 4.0E-06 0.700 1.000 9 2000 2017
dbSNP: rs137852753
rs137852753
BMPR2
3 0.882 0.080 2 202518831 stop gained C/T snv 0.700 1.000 8 2000 2011
dbSNP: rs137852748
rs137852748
BMPR2
2 0.925 0.080 2 202556282 stop gained C/T snv 0.700 1.000 7 2000 2013
dbSNP: rs1085307395
rs1085307395
BMPR2
1 1.000 0.040 2 202556244 frameshift variant T/- delins 0.700 1.000 5 2000 2006
dbSNP: rs1085307297
rs1085307297
BMPR2
1 1.000 0.040 2 202530924 frameshift variant GGAGG/- delins 0.700 1.000 3 2000 2009
dbSNP: rs1085307321
rs1085307321
BMPR2
1 1.000 0.040 2 202532704 frameshift variant A/- del 0.700 1.000 3 2000 2006
dbSNP: rs1085307370
rs1085307370
BMPR2
1 1.000 0.040 2 202555632 frameshift variant -/A delins 0.700 1.000 2 2000 2013
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: 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: rs1085307254
rs1085307254
BMPR2
1 1.000 0.040 2 202518927 stop gained G/A;C;T snv 0.700 1.000 6 2001 2015
dbSNP: rs748230358
rs748230358
BMPR2
1 1.000 0.040 2 202532582 splice region variant C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 5 2001 2012
dbSNP: rs765887545
rs765887545
BMPR2
2 0.925 0.080 2 202555415 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 2001 2015
dbSNP: rs1085307310
rs1085307310
BMPR2
1 1.000 0.040 2 202532645 stop gained TG/- delins 0.700 1.000 2 2001 2009
dbSNP: rs1085307377
rs1085307377
BMPR2
1 1.000 0.040 2 202555951 frameshift variant -/A delins 0.700 1.000 2 2001 2015
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