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: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 1.000 2 2011 2018
dbSNP: rs5215
rs5215
7 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.010 1.000 1 2015 2015