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: rs144567652
rs144567652
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs147021911
rs147021911
9 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.010 1.000 1 2018 2018