Source: ALL
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: rs1568940442
rs1568940442
1 20 63444765 missense variant G/A snv 0.700 1.000 5 2007 2015
dbSNP: rs1564367605
rs1564367605
1 9 135768856 missense variant G/A snv 0.700 1.000 3 2015 2017
dbSNP: rs1064793923
rs1064793923
1 12 51699581 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1085307920
rs1085307920
1 20 63444805 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs10974620
rs10974620
1 9 4557296 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11001109
rs11001109
ADK
1 10 74683339 intron variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs115466046
rs115466046
2 1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs140646329
rs140646329
2 1 160042283 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1438466809
rs1438466809
2 11 128840191 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1443445
rs1443445
1 9 84919243 intron variant G/A snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs370079169
rs370079169
1 16 1213792 missense variant G/A;C snv 3.7E-04; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs3780645
rs3780645
1 9 84944879 intron variant C/T snv 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs45517281
rs45517281
1 16 2079171 missense variant T/C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs61752371
rs61752371
1 X 154030753 missense variant A/G snv 8.3E-05 4.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs746487237
rs746487237
1 1 183208049 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs761188359
rs761188359
1 20 63408469 missense variant C/A;G;T snv 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs786205724
rs786205724
1 4 113282730 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs796052995
rs796052995
1 2 166013842 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs797044938
rs797044938
2 20 63442529 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs868732642
rs868732642
1 4 127938782 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs868950793
rs868950793
1 X 153688666 missense variant C/A;G;T snv 1.6E-05; 3.3E-05 3.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs9444348
rs9444348
2 6 85465856 intron variant G/A snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs1057517891
rs1057517891
1 15 89333346 stop gained G/A snv 0.700 0
dbSNP: rs1060499740
rs1060499740
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs1189909394
rs1189909394
5 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0