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: rs121909612
rs121909612
FGA
1 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.800 1.000 1 1993 1993
dbSNP: rs78506343
rs78506343
FGA
1 1.000 0.080 4 154585711 splice acceptor variant C/A;G;T snv 4.0E-06; 4.4E-05 0.800 1.000 1 1993 1993
dbSNP: rs587777761
rs587777761
FGA
1 1.000 0.080 4 154585807 frameshift variant A/- del 0.700 0
dbSNP: rs587777762
rs587777762
FGA
1 1.000 0.080 4 154585800 frameshift variant C/- del 0.700 0