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: rs512535
rs512535
3 0.925 0.080 2 21044910 upstream gene variant T/C snv 0.45 0.020 1.000 2 2011 2017
dbSNP: rs1469513
rs1469513
2 1.000 0.080 2 21036690 intron variant T/C snv 0.34 0.010 1.000 1 2015 2015