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: rs121908211
rs121908211
5 0.882 0.080 19 13371744 missense variant C/T snv 0.010 < 0.001 1 2005 2005