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: rs527892258
rs527892258
3 0.925 0.040 16 50723350 missense variant A/C;G snv 1.7E-04; 4.4E-05 0.010 1.000 1 2009 2009