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: rs12532
rs12532
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.020 0.500 2 2011 2013
dbSNP: rs3775261
rs3775261
2 1.000 0.080 4 4862018 intron variant C/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs3821949
rs3821949
2 1.000 0.080 4 4858675 upstream gene variant G/A snv 0.32 0.010 1.000 1 2011 2011