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: rs331142
rs331142
1 1.000 3 78871694 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014