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: rs398123044
rs398123044
3 0.882 0.080 4 13381577 stop gained G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs786200944
rs786200944
2 0.925 0.080 4 13376553 stop gained G/A;T snv 0.010 1.000 1 2013 2013