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: rs56302516
rs56302516
1 1.000 0.120 5 518319 intron variant C/G;T snv 0.700 1.000 1 2015 2015