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: rs1057519865
rs1057519865
15 0.742 0.240 3 138946321 missense variant G/C snv 0.100 0.957 23 2009 2017
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs200292857
rs200292857
2 0.925 0.160 12 6329974 synonymous variant G/A;C snv 4.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs746899020
rs746899020
3 0.882 0.160 12 6329495 missense variant G/A;C snv 4.6E-06 0.010 1.000 1 2011 2011
dbSNP: rs748835289
rs748835289
2 0.925 0.160 2 201285037 missense variant G/T snv 4.0E-06 0.010 1.000 1 2011 2011