Gene: BMPR2 ×
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 0.040 1.000 4 2010 2016
dbSNP: rs1085307252
rs1085307252
BMPR2
3 0.882 0.080 2 202518890 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1085307253
rs1085307253
BMPR2
3 0.882 0.080 2 202518890 frameshift variant AG/T delins 0.010 1.000 1 2014 2014
dbSNP: rs137852749
rs137852749
BMPR2
3 0.882 0.080 2 202552774 missense variant G/A snv 0.010 1.000 1 2019 2019