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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.800 1.000 1 2011 2011
dbSNP: rs1494961
rs1494961
3 0.925 0.160 4 83453327 missense variant C/T snv 0.56 0.60 0.800 1.000 1 2011 2011
dbSNP: rs1789924
rs1789924
5 0.925 0.160 4 99353129 upstream gene variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs4767364
rs4767364
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs971074
rs971074
3 0.925 0.040 4 99420704 synonymous variant C/T snv 0.12 0.13 0.800 1.000 1 2011 2011
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs1057519830
rs1057519830
3 1.000 0.040 7 55163737 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs121913231
rs121913231
2 1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913344
rs121913344
5 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs146795390
rs146795390
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 1.000 1 2013 2013