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: rs9862857
rs9862857
4 0.851 0.040 3 30453840 regulatory region variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs9825823
rs9825823
5 0.851 0.080 3 61096480 intron variant T/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs9722
rs9722
9 0.776 0.200 21 46599326 3 prime UTR variant G/A snv 0.16; 2.4E-05 0.21 0.010 1.000 1 2008 2008
dbSNP: rs946903
rs946903
3 0.882 0.040 1 147625465 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs945032
rs945032
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs9394309
rs9394309
4 0.851 0.040 6 35654004 intron variant G/A snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs9364726
rs9364726
3 0.882 0.040 6 164236705 intergenic variant A/G snv 6.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs9321987
rs9321987
3 0.925 0.040 6 144709148 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs853679
rs853679
4 0.851 0.160 6 28329086 intron variant C/A snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 1.000 1 2006 2006
dbSNP: rs8150
rs8150
6 0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs806371
rs806371
4 0.882 0.040 6 88146644 intron variant T/G snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs80278479
rs80278479
3 0.925 0.040 6 50758466 intron variant C/G snv 3.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs7973260
rs7973260
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs796590326
rs796590326
5 0.851 0.200 12 121162449 missense variant GT/AC mnv 0.010 < 0.001 1 2011 2011
dbSNP: rs794727961
rs794727961
5 0.851 0.080 12 2512979 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs7828021
rs7828021
3 0.925 0.040 8 49727454 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs782212
rs782212
2 0.925 0.040 1 72479983 intron variant C/T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs78087832
rs78087832
3 0.925 0.040 2 224600060 intergenic variant C/T snv 2.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs77945277
rs77945277
3 0.925 0.040 14 34840969 intron variant A/G snv 4.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs77826363
rs77826363
3 0.882 0.040 6 1128802 intergenic variant G/T snv 2.2E-02 0.700 1.000 1 2018 2018