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: rs367398
rs367398
NOTCH4
5 0.827 0.160 6 32223953 5 prime UTR variant G/A snv 0.34 0.40 0.010 < 0.001 1 2015 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2018 2018