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: rs121908332
rs121908332
5 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2014 2014