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: rs121917986
rs121917986
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011