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: rs62323682
rs62323682
2 1.000 4 53684007 intron variant T/C snv 5.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs745398820
rs745398820
2 1.000 4 53466157 intron variant AAAAA/-;AAA;AAAA;AAAAAA delins 1.1E-03 0.700 1.000 1 2018 2018