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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2004 2004
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.010 < 0.001 1 2006 2006
dbSNP: rs62636489
rs62636489
3 0.925 0.040 12 52898860 missense variant G/A snv 7.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.250 4 2008 2014
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
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: rs137854608
rs137854608
2 0.925 0.120 3 38609776 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2009 2009
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
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs3765534
rs3765534
4 0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02 0.010 1.000 1 2010 2010
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: rs4263839
rs4263839
7 0.807 0.160 9 114804160 intron variant A/G snv 0.75 0.030 0.667 3 2011 2019
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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 0.500 2 2011 2014
dbSNP: rs806378
rs806378
2 1.000 0.040 6 88149832 intron variant C/T snv 0.21 0.020 1.000 2 2011 2013
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: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs7209436
rs7209436
5 0.851 0.200 17 45792776 intron variant C/T snv 0.43 0.030 1.000 3 2012 2016
dbSNP: rs242924
rs242924
3 0.882 0.080 17 45808001 intron variant G/T snv 0.44 0.020 1.000 2 2012 2016
dbSNP: rs11190140
rs11190140
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs224222
rs224222
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2012 2012
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: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2013 2013
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: rs7130929
rs7130929
1 1.000 0.040 11 18046616 upstream gene variant C/A snv 0.40 0.010 1.000 1 2013 2013