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: rs137852755
rs137852755
BMPR2
1 1.000 2 202464852 stop gained T/G snv 0.700 0
dbSNP: rs397514496
rs397514496
BMPR2
1 1.000 2 202514962 missense variant A/T snv 0.700 0
dbSNP: rs397514497
rs397514497
BMPR2
1 1.000 2 202514941 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs483352902
rs483352902
BMPR2
2 0.925 0.040 2 202377517 frameshift variant C/- delins 0.700 0