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: rs5030717
rs5030717
9 0.807 0.240 9 117711556 intron variant A/G snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs5030718
rs5030718
8 0.827 0.200 9 117713548 stop gained G/A;T snv 3.1E-03; 8.0E-06 0.010 1.000 1 2018 2018