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: rs746141726
rs746141726
1 1.000 20 33757310 stop gained C/T snv 9.0E-06 7.0E-06 0.700 1.000 2 2018 2018
dbSNP: rs1568940507
rs1568940507
1 1.000 20 33753265 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs376598954
rs376598954
1 1.000 20 33781315 stop gained C/G;T snv 3.6E-05 7.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs982121798
rs982121798
1 1.000 20 33761989 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1568945329
rs1568945329
1 1.000 20 33761916 frameshift variant G/- del 0.700 0