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: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs543412
rs543412
2 0.925 0.120 11 122152219 intron variant C/T snv 2.0E-05; 0.32 0.32 0.010 1.000 1 2019 2019
dbSNP: rs7089424
rs7089424
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.010 1.000 1 2019 2019