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: rs2048327
rs2048327
5 0.851 0.120 6 160442500 intron variant T/C snv 0.28 0.010 1.000 1 2019 2019