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: rs121913283
rs121913283
14 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 2005 2012
dbSNP: rs1064793732
rs1064793732
2 0.882 0.320 3 179204536 missense variant G/A snv 0.700 1.000 3 2008 2016
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 3 2007 2016
dbSNP: rs1057519942
rs1057519942
15 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs397514565
rs397514565
3 0.882 0.240 3 179204576 missense variant G/A snv 0.700 0