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: rs28940893
rs28940893
6 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.750 1.000 5 1991 2016
dbSNP: rs74315457
rs74315457
5 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.740 1.000 4 1991 2016
dbSNP: rs74315455
rs74315455
1 0.925 0.120 22 50627329 missense variant C/A;T snv 1.5E-05; 1.5E-05 0.720 0.909 2 1991 2018
dbSNP: rs199476357
rs199476357
1 1.000 0.120 22 50627619 missense variant A/G snv 0.710 1.000 1 2006 2006
dbSNP: rs199476361
rs199476361
1 1.000 0.120 22 50625453 missense variant T/C snv 0.710 1.000 1 2006 2006
dbSNP: rs199476374
rs199476374
1 1.000 0.120 22 50626941 missense variant G/T snv 8.0E-06 7.0E-06 0.710 1.000 1 1999 1999
dbSNP: rs199476383
rs199476383
1 1.000 0.120 22 50626857 missense variant A/C snv 0.710 1.000 1 2005 2005
dbSNP: rs199476384
rs199476384
1 1.000 0.120 22 50626699 missense variant A/G snv 1.2E-05 0.710 1.000 1 2003 2015
dbSNP: rs199476385
rs199476385
1 1.000 0.120 22 50625263 missense variant G/C snv 0.710 1.000 1 2003 2003
dbSNP: rs199476390
rs199476390
1 1.000 0.120 22 50626191 missense variant C/A;T snv 2.1E-05; 4.1E-06 0.710 1.000 1 2000 2000
dbSNP: rs28940895
rs28940895
1 0.925 0.120 22 50625446 missense variant G/A snv 4.2E-06 7.0E-06 0.710 1.000 1 2001 2001
dbSNP: rs60504011
rs60504011
1 1.000 0.120 22 50627219 missense variant G/A;C;T snv 8.4E-06; 4.2E-06 0.710 1.000 1 2003 2003
dbSNP: rs6151425
rs6151425
2 0.925 0.160 22 50625640 missense variant G/A;C;T snv 3.4E-02 0.710 1.000 1 2003 2003
dbSNP: rs74315458
rs74315458
1 0.925 0.120 22 50627374 missense variant C/A;T snv 7.1E-05 4.2E-05 0.710 1.000 1 1992 2016
dbSNP: rs80338819
rs80338819
2 0.925 0.120 22 50626676 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.710 1.000 1 1992 2015
dbSNP: rs1199771724
rs1199771724
1 1.000 0.120 22 50627372 start lost T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1220454918
rs1220454918
1 1.000 0.120 22 50626019 missense variant G/A;C snv 5.0E-06; 5.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1410667898
rs1410667898
1 1.000 0.120 22 50625404 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs199476362
rs199476362
1 1.000 0.120 22 50627398 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs199476375
rs199476375
1 1.000 0.120 22 50627182 missense variant G/A;C snv 4.1E-06 0.010 1.000 1 1999 1999
dbSNP: rs2071421
rs2071421
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2006 2006
dbSNP: rs6151428
rs6151428
1 1.000 0.120 22 50625182 missense variant C/A;G;T snv 6.9E-05; 4.6E-06; 9.2E-06; 1.4E-05; 3.0E-02 0.010 1.000 1 1998 1998
dbSNP: rs777431148
rs777431148
1 1.000 0.120 22 50627293 missense variant A/G snv 5.0E-06 7.0E-06 0.010 1.000 1 2017 2017