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: rs28939668
rs28939668
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs104893902
rs104893902
2 0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 0.700 1.000 3 1999 2003
dbSNP: rs1057515420
rs1057515420
1 1.000 0.080 7 100819874 missense variant G/A snv 0.700 1.000 2 2009 2016
dbSNP: rs11066320
rs11066320
5 0.925 0.120 12 112468611 intron variant A/G snv 0.70 0.710 1.000 2 2012 2013
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2015 2018
dbSNP: rs774966208
rs774966208
1 1.000 0.080 9 136523014 missense variant C/G;T snv 0.700 1.000 2 2009 2016
dbSNP: rs10080
rs10080
1 1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs11065987
rs11065987
17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs1114167357
rs1114167357
1 1.000 0.080 15 63042945 splice donor variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs12519770
rs12519770
1 1.000 0.080 5 90777460 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs1448468136
rs1448468136
1 1.000 0.080 8 105802610 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs17153694
rs17153694
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17696736
rs17696736
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs181317402
rs181317402
3 0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1857231
rs1857231
1 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 0.700 1.000 1 2013 2013
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs233716
rs233716
1 1.000 0.080 12 112602139 intron variant C/T snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs233722
rs233722
1 1.000 0.080 12 112593670 intron variant G/A snv 0.53 0.700 1.000 1 2013 2013
dbSNP: rs2388896
rs2388896
1 1.000 0.080 10 8912261 intron variant A/G snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs288979
rs288979
1 1.000 0.080 18 21031282 intron variant A/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs368858287
rs368858287
1 1.000 0.080 18 22200684 missense variant G/C;T snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs387906818
rs387906818
3 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014