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: rs17514846
rs17514846
5 0.882 0.120 15 90873320 intron variant C/A;G snv 0.810 1.000 2 2013 2018