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: rs5030952
rs5030952
3 0.925 0.160 2 240603286 intron variant C/G;T snv 0.730 1.000 3 2010 2013