Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs147718607 0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04 3
rs201133219 1.000 19 48297995 splice region variant C/T snv 8.0E-05 7.0E-05 2
rs606231238 1.000 19 48311552 splice donor variant C/T snv 1.9E-05; 6.4E-06 2.8E-05 1
rs606231239 1.000 19 48306325 splice acceptor variant T/C snv 1.9E-05 2.8E-05 1
rs606231240 1.000 19 48303034 frameshift variant A/- del 2.0E-05 7.0E-06 1