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: rs121909283
rs121909283
NODAL
4 0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 0.800 1.000 2 1997 2009
dbSNP: rs104894169
rs104894169
NODAL
1 1.000 0.120 10 70435629 missense variant C/T snv 8.8E-05 2.2E-04 0.700 1.000 2 1997 2009
dbSNP: rs781366461
rs781366461
NODAL
1 1.000 0.120 10 70435354 missense variant G/A snv 5.2E-05 0.700 1.000 2 1997 2009
dbSNP: rs10999334
rs10999334
NODAL
1 1.000 0.120 10 70435570 missense variant C/T snv 4.3E-04 1.6E-04 0.700 0
dbSNP: rs1310479365
rs1310479365
NODAL
1 1.000 0.120 10 70435327 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1564667180
rs1564667180
NODAL
1 1.000 0.120 10 70435470 frameshift variant GGTGCCTC/- delins 0.700 0
dbSNP: rs1564667617
rs1564667617
NODAL
1 1.000 0.120 10 70435984 splice acceptor variant C/A snv 0.700 0
dbSNP: rs878855044
rs878855044
NODAL
1 1.000 0.120 10 70435285 splice donor variant C/T snv 7.0E-06 0.700 0