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: rs144478519
rs144478519
2 0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.010 1.000 1 2013 2013