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: rs1361728
rs1361728
2 0.925 0.040 1 56801207 intron variant T/C snv 5.1E-02 0.700 1.000 1 2018 2018