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: rs41303343
rs41303343
1 7 99652770 frameshift variant -/A delins 4.0E-06; 7.3E-03 3.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs776746
rs776746
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.700 1.000 1 2019 2019