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: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.030 1.000 3 2006 2014
dbSNP: rs34637584
rs34637584
47 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.030 1.000 3 2012 2015
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs34778348
rs34778348
10 0.769 0.143 12 40363526 missense variant G/A snp 1.7E-03 1.4E-03 0.010 1.000 1 2016 2016
dbSNP: rs63751273
rs63751273
26 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2008 2008
dbSNP: rs7665116
rs7665116
1 4 23851388 intron variant T/A,C snp 0.25 0.010 < 0.001 1 2013 2013