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: rs1009726086
rs1009726086
NTRK1
1 1.000 0.040 1 156881499 missense variant C/T snv 1.4E-05 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs761749948
rs761749948
EPHB2
1 1.000 0.040 1 22908049 missense variant C/G;T snv 1.6E-05 1.4E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs763591781
rs763591781
NTRK1
1 1.000 0.040 1 156881481 missense variant C/T snv 5.1E-05 2.8E-05 0.010 < 0.001 1 2018 2018