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: rs140630401
rs140630401
1 1.000 0.080 3 121772683 missense variant C/T snv 1.1E-03 1.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs398123538
rs398123538
6 0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05 0.700 1.000 1 2019 2019