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: rs150576702
rs150576702
2 0.925 0.120 5 34937404 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs770282904
rs770282904
2 0.925 0.120 5 34938907 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879253818
rs879253818
2 0.925 0.120 5 34929913 missense variant C/G snv 0.700 1.000 1 2016 2016