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: rs2445142
rs2445142
2 0.925 0.120 1 21899250 intron variant G/A;C snv 0.030 1.000 3 2010 2018
dbSNP: rs878949
rs878949
2 0.925 0.120 1 21900598 intron variant T/C snv 0.52 0.010 1.000 1 2012 2012