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: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs4263839
rs4263839
7 0.807 0.160 9 114804160 intron variant A/G snv 0.75 0.030 0.667 3 2011 2019
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2015 2015
dbSNP: rs9999118
rs9999118
1 1.000 0.040 4 123130312 intron variant A/G snv 1.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs1881457
rs1881457
9 0.790 0.280 5 132656717 intron variant A/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs750438327
rs750438327
TG
2 1.000 0.040 8 132888076 missense variant G/A;C snv 7.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs201253747
rs201253747
2 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs245051
rs245051
1 1.000 0.040 5 149966412 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs684302
rs684302
1 1.000 0.040 11 18038806 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs7130929
rs7130929
1 1.000 0.040 11 18046616 upstream gene variant C/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs4537731
rs4537731
3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2011 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 0.500 2 2013 2019
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2019 2019
dbSNP: rs11554825
rs11554825
3 0.882 0.120 2 218261086 5 prime UTR variant C/T snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs149382949
rs149382949
2 1.000 0.040 2 219232579 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17837965
rs17837965
1 1.000 0.040 1 22068132 intron variant A/G snv 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2017 2019
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2008 2008
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009