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: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs5743313
rs5743313
4 0.851 0.200 4 186079213 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012