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: rs1335054067
rs1335054067
1 1.000 0.040 X 30308211 missense variant C/A snv 1.1E-05 0.010 1.000 1 2015 2015