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: 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: 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: 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: 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: rs1060502581
rs1060502581
BMPR2
2 0.925 0.080 2 202520195 stop gained C/T snv 0.700 1.000 5 2004 2011
dbSNP: rs1085307395
rs1085307395
BMPR2
1 1.000 0.040 2 202556244 frameshift variant T/- delins 0.700 1.000 5 2000 2006
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: rs863223420
rs863223420
BMPR2
1 1.000 0.040 2 202530955 splice donor variant G/A;C;T snv 0.700 1.000 5 2003 2018
dbSNP: rs863223426
rs863223426
BMPR2
2 0.925 0.080 2 202467648 missense variant A/G snv 0.700 1.000 5 2009 2015
dbSNP: rs886041324
rs886041324
BMPR2
2 0.925 0.080 2 202518837 stop gained C/T snv 0.700 1.000 5 2004 2015
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