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
4 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.900 0.906 4 1998 2019
dbSNP: rs5215
rs5215
2 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.860 0.941 7 2007 2018
dbSNP: rs2074314
rs2074314
1 1.000 0.080 11 17390274 upstream gene variant C/T snv 0.72 0.800 1.000 1 2011 2019