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: rs12454712
rs12454712
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4987867
rs4987867
3 18 63123839 3 prime UTR variant C/T snv 6.4E-03 0.700 1.000 1 2012 2012