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: rs13038305
rs13038305
5 0.925 0.080 20 23629625 intron variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs911119
rs911119
9 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2016 2016