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: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.333 3 2003 2008
dbSNP: rs16840252
rs16840252
8 0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs733618
rs733618
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.010 1.000 1 2019 2019