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: rs10744777
rs10744777
1 1.000 0.080 12 111795214 intron variant T/C snv 0.53 0.720 1.000 3 2014 2018
dbSNP: rs16924159
rs16924159
1 1.000 0.080 9 6229417 intron variant G/A snv 0.28 0.020 1.000 2 2013 2019
dbSNP: rs17222814
rs17222814
1 1.000 0.080 13 30725416 intron variant G/A snv 6.9E-02 0.020 0.500 2 2008 2019
dbSNP: rs3842788
rs3842788
1 1.000 0.080 9 122377927 splice acceptor variant G/A snv 4.6E-02 9.5E-02 0.020 1.000 2 2011 2019
dbSNP: rs1017119
rs1017119
C5
1 1.000 0.080 9 121045260 intron variant T/C snv 2.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs10204475
rs10204475
1 1.000 0.080 2 170076012 intron variant T/G snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs10400694
rs10400694
1 1.000 0.080 14 84147550 intergenic variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10431036
rs10431036
1 1.000 0.080 11 112176338 5 prime UTR variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10487667
rs10487667
1 1.000 0.080 7 139984244 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1051922
rs1051922
1 1.000 0.080 9 21077717 synonymous variant G/A snv 0.33 0.35 0.010 1.000 1 2020 2020
dbSNP: rs1062708
rs1062708
1 1.000 0.080 19 49010016 missense variant C/A;G;T snv 4.3E-06; 1.7E-05; 0.48 0.010 1.000 1 2009 2009
dbSNP: rs10849373
rs10849373
1 1.000 0.080 12 631795 intron variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs10900213
rs10900213
1 1.000 0.080 10 45409266 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11052413
rs11052413
1 1.000 0.080 12 33053704 intergenic variant T/G snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs11214109
rs11214109
1 1.000 0.080 11 112173503 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11498973
rs11498973
1 1.000 0.080 10 84732025 intergenic variant A/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11542029
rs11542029
1 1.000 0.080 19 44907864 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs11572061
rs11572061
1 1.000 0.080 6 44448340 3 prime UTR variant A/G snv 8.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs116902978
rs116902978
1 1.000 0.080 13 65253855 regulatory region variant T/G snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs11712039
rs11712039
1 1.000 0.080 3 124254739 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs117440128
rs117440128
1 1.000 0.080 21 35801864 intron variant G/A snv 6.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs11867415
rs11867415
1 1.000 0.080 17 1668524 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs12128240
rs12128240
1 1.000 0.080 1 9151244 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs12153798
rs12153798
1 1.000 0.080 5 60491814 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs12438353
rs12438353
1 1.000 0.080 15 86771849 intron variant C/T snv 0.38 0.700 1.000 1 2015 2015