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: rs1085307167
rs1085307167
BMPR2
1 1.000 2 202464857 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1085307168
rs1085307168
BMPR2
1 1.000 2 202464872 missense variant G/A snv 0.700 1.000 1 2004 2004
dbSNP: rs1085307206
rs1085307206
BMPR2
1 1.000 2 202467575 missense variant A/G snv 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs1085307207
rs1085307207
BMPR2
1 1.000 2 202467590 missense variant T/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1085307244
rs1085307244
BMPR2
1 1.000 2 202514914 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs146583835
rs146583835
SMAD9
1 1.000 13 36879486 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs1553508187
rs1553508187
BMPR2
1 1.000 2 202513830 splice donor variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1555882009
rs1555882009
TBX4
1 1.000 17 61465830 missense variant C/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1555882291
rs1555882291
TBX4
1 1.000 17 61467645 frameshift variant CCCTTTGGCC/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1555883338
rs1555883338
TBX4
1 1.000 17 61478746 inframe deletion TTC/- delins 0.700 1.000 1 2018 2018
dbSNP: rs767070218
rs767070218
BMPR2
2 0.925 0.040 2 202532733 splice donor variant G/A snv 0.700 1.000 1 2018 2018