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: rs2289252
rs2289252
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.740 1.000 5 2013 2019