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: rs4503083
rs4503083
2 0.925 0.120 8 40015416 stop gained T/A snv 0.23 0.19 0.010 1.000 1 2018 2018