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: rs74315511
rs74315511
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.010 1.000 1 2001 2001