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: rs2298566
rs2298566
5 0.827 0.040 11 130880747 missense variant A/C;T snv 0.77; 4.0E-06 0.010 1.000 1 2007 2007