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: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2670660
rs2670660
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs2230911
rs2230911
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 < 0.001 1 2013 2013
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1800897
rs1800897
2 0.925 0.240 10 100809115 synonymous variant C/T snv 7.4E-02 0.13 0.010 1.000 1 2015 2015
dbSNP: rs11864909
rs11864909
7 0.851 0.160 16 20389517 intron variant C/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs13385731
rs13385731
3 0.882 0.200 2 33476823 intron variant T/C snv 6.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs3758391
rs3758391
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs10847697
rs10847697
3 0.882 0.200 12 128814840 synonymous variant G/A snv 0.13 9.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4958881
rs4958881
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2006 2006