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: rs80338827
rs80338827
4 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002