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: rs121908144
rs121908144
3 0.882 0.240 1 54999221 missense variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009