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: rs12518099
rs12518099
1 0.925 0.120 5 90250292 intron variant A/G;T snv 0.800 1.000 1 2009 2011