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: rs1187323
rs1187323
5 0.882 0.080 9 84668501 upstream gene variant C/A;G;T snv 0.020 1.000 2 2009 2015
dbSNP: rs1187329
rs1187329
3 0.925 0.080 9 84674365 intron variant A/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs1212171
rs1212171
8 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 0.010 1.000 1 2013 2013