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: rs3842748
rs3842748
2 0.925 0.200 11 2160165 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs689
rs689
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.010 1.000 1 2015 2015