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: rs167479
rs167479
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 5 2016 2019
dbSNP: rs77279095
rs77279095
1 19 11415506 intron variant G/A snv 4.2E-02 0.700 1.000 1 2017 2017