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: rs904520404
rs904520404
2 0.925 0.080 6 24302010 stop gained G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020