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: rs587777008
rs587777008
ERF
1 1.000 19 42250332 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs587777009
rs587777009
ERF
1 1.000 19 42250394 missense variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs587777006
rs587777006
ERF
3 0.882 0.080 19 42249565 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs587777007
rs587777007
ERF
2 0.925 0.080 19 42249220 frameshift variant CT/- del 0.700 0
dbSNP: rs587777010
rs587777010
ERF
1 1.000 19 42248842 stop gained G/A snv 0.700 0
dbSNP: rs864321680
rs864321680
ERF
1 1.000 19 42250567 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs864321681
rs864321681
ERF
1 1.000 19 42254999 start lost T/C snv 0.700 0