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: rs3129055
rs3129055
2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs31489
rs31489
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs3731239
rs3731239
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs587778720
rs587778720
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs6498114
rs6498114
2 1.000 0.080 16 10870261 intron variant G/T snv 0.78 0.700 1.000 1 2016 2016
dbSNP: rs6774494
rs6774494
4 0.882 0.160 3 169364845 intron variant G/A snv 0.42 0.700 1.000 2 2010 2016
dbSNP: rs753660142
rs753660142
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs9510787
rs9510787
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.700 1.000 2 2010 2016