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: rs2296793
rs2296793
1 9 129822779 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2016 2016
dbSNP: rs3842225
rs3842225
6 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 0.010 < 0.001 1 2016 2016
dbSNP: rs529094238
rs529094238
1 9 129822640 missense variant C/T snv 7.2E-05 2.8E-05 0.010 1.000 1 2015 2015