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: rs368687817
rs368687817
2 1.000 0.120 17 42543079 missense variant C/T snv 3.3E-05 4.2E-05 0.010 1.000 1 2018 2018