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: rs1653624
rs1653624
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2017 2017