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: rs387907089
rs387907089
1 1.000 3 43555417 missense variant A/C snv 4.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs1210764379
rs1210764379
1 1.000 3 43600415 stop gained G/A;T snv 0.700 0
dbSNP: rs138000380
rs138000380
1 1.000 3 43432682 missense variant C/T snv 4.1E-04 3.4E-04 0.700 0
dbSNP: rs144272231
rs144272231
1 1.000 3 43576710 stop gained C/A;T snv 4.0E-05 0.700 0
dbSNP: rs540331226
rs540331226
1 1.000 3 43605721 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs758937084
rs758937084
1 1.000 3 43605757 frameshift variant T/- delins 7.2E-05 8.4E-05 0.700 0
dbSNP: rs761213683
rs761213683
1 1.000 3 43561219 splice donor variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs765592794
rs765592794
1 1.000 3 43600383 splice donor variant C/T snv 4.8E-05 2.8E-05 0.700 0
dbSNP: rs794726680
rs794726680
1 1.000 3 43576703 frameshift variant AA/- delins 0.700 0
dbSNP: rs794726681
rs794726681
1 1.000 3 43555342 frameshift variant A/- delins 7.0E-06 0.700 0
dbSNP: rs797045240
rs797045240
1 1.000 3 43549850 splice acceptor variant T/A;C snv 4.0E-06 0.700 0