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: rs600491
rs600491
2 0.925 0.080 1 54867852 intron variant C/A;T snv 0.010 1.000 1 2012 2012