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: rs1085307154
rs1085307154
BMPR2
2 0.925 0.080 2 202377522 stop gained G/A snv 0.700 1.000 4 2008 2015
dbSNP: rs1085307177
rs1085307177
BMPR2
2 0.925 0.080 2 202464932 missense variant A/G snv 0.700 1.000 4 2004 2010
dbSNP: rs1085307325
rs1085307325
BMPR2
1 1.000 0.040 2 202532715 missense variant G/A snv 0.700 1.000 4 2004 2012
dbSNP: rs1085307346
rs1085307346
BMPR2
1 1.000 0.040 2 202542431 stop gained G/A snv 0.700 1.000 4 2004 2011
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: rs946132834
rs946132834
BMPR2
1 1.000 0.040 2 202532663 stop gained C/T snv 0.700 1.000 4 2002 2013
dbSNP: rs1085307174
rs1085307174
BMPR2
1 1.000 0.040 2 202464920 inframe deletion TAGCACCTGCTATGGCCTTTG/- delins 0.700 1.000 3 2006 2009
dbSNP: rs1085307175
rs1085307175
BMPR2
1 1.000 0.040 2 202464928 missense variant T/C;G snv 0.700 1.000 3 2004 2015
dbSNP: rs1085307184
rs1085307184
BMPR2
2 0.925 0.080 2 202464976 stop gained C/T snv 0.700 1.000 3 2003 2011
dbSNP: rs1085307211
rs1085307211
BMPR2
1 1.000 0.040 2 202467610 stop gained C/A;G snv 0.700 1.000 3 2008 2012
dbSNP: rs1085307248
rs1085307248
BMPR2
1 1.000 0.040 2 202518857 frameshift variant -/G delins 0.700 1.000 3 2006 2011
dbSNP: rs1085307297
rs1085307297
BMPR2
1 1.000 0.040 2 202530924 frameshift variant GGAGG/- delins 0.700 1.000 3 2000 2009
dbSNP: rs1085307307
rs1085307307
BMPR2
2 0.925 0.040 2 202532613 missense variant A/C;G;T snv 0.700 1.000 3 2008 2013
dbSNP: rs1085307321
rs1085307321
BMPR2
1 1.000 0.040 2 202532704 frameshift variant A/- del 0.700 1.000 3 2000 2006
dbSNP: rs1085307331
rs1085307331
BMPR2
1 1.000 0.040 2 202542302 intron variant A/C;G snv 0.700 1.000 3 2009 2015
dbSNP: rs1085307380
rs1085307380
BMPR2
1 1.000 0.040 2 202555970 frameshift variant C/- delins 0.700 1.000 3 2008 2015
dbSNP: rs863223424
rs863223424
BMPR2
2 0.925 0.080 2 202520085 splice acceptor variant A/G snv 7.2E-06 0.700 1.000 3 2006 2015
dbSNP: rs863223425
rs863223425
BMPR2
1 1.000 0.040 2 202467566 missense variant T/C snv 7.0E-06 0.700 1.000 3 2006 2009
dbSNP: rs868369541
rs868369541
BMPR2
1 1.000 0.040 2 202542382 stop gained C/T snv 0.700 1.000 3 2004 2011
dbSNP: rs1085307149
rs1085307149
BMPR2
2 0.925 0.080 2 202377501 stop gained G/A snv 0.700 1.000 2 2006 2012
dbSNP: rs1085307151
rs1085307151
BMPR2
1 1.000 0.040 2 202377512 stop gained G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs1085307153
rs1085307153
BMPR2
1 1.000 0.040 2 202377521 stop gained G/A snv 0.700 1.000 2 2005 2013
dbSNP: rs1085307162
rs1085307162
BMPR2
1 1.000 0.040 2 202464823 stop gained G/A;T snv 0.700 1.000 2 2004 2011
dbSNP: rs1085307171
rs1085307171
BMPR2
1 1.000 0.040 2 202464910 missense variant T/C;G snv 0.700 1.000 2 2012 2015
dbSNP: rs1085307176
rs1085307176
BMPR2
1 1.000 0.040 2 202464929 missense variant G/A snv 0.700 1.000 2 2006 2010