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: rs7512080
rs7512080
1 1.000 0.080 1 162639948 intron variant A/G snv 4.6E-02 0.700 1.000 1 2020 2020