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: rs748123388
rs748123388
1 1.000 0.240 20 46689221 missense variant T/A;C snv 1.6E-05; 1.6E-05 0.010 1.000 1 2018 2018