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: rs1060502576
rs1060502576
BMPR2
3 0.882 0.080 2 202542432 stop gained G/A snv 0.700 0
dbSNP: rs137852741
rs137852741
BMPR2
7 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs774906916
rs774906916
EIF2AK4
2 0.925 0.120 15 40003301 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018