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: rs2444217
rs2444217
3 16 3988386 intron variant G/A snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs2531995
rs2531995
7 1.000 0.080 16 3963466 3 prime UTR variant C/T snv 0.45 0.700 1.000 1 2014 2014