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: rs2187668
rs2187668
20 0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 0.040 1.000 4 2013 2018
dbSNP: rs28383345
rs28383345
1 1.000 0.120 6 32637457 5 prime UTR variant G/A snv 9.4E-02 0.12 0.010 1.000 1 2017 2017