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: rs387906831
rs387906831
1 1.000 0.080 1 20654660 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs587776874
rs587776874
1 1.000 0.080 1 20652464 frameshift variant AGTAGGGGTAGGCCGAGGGGAT/- delins 0.700 0
dbSNP: rs867045420
rs867045420
1 1.000 0.080 1 20654614 missense variant C/A;G snv 1.2E-05 0.700 0