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: rs1214031315
rs1214031315
3 0.882 0.040 12 112419123 splice region variant G/A snv 0.010 1.000 1 2007 2007