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: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.020 1.000 2 2002 2019
dbSNP: rs2236857
rs2236857
1 1.000 0.080 1 28835097 intron variant T/C snv 0.28 0.020 1.000 2 2014 2019
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2002 2002
dbSNP: rs10494334
rs10494334
1 1.000 0.080 1 163535374 intergenic variant G/A snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs147247472
rs147247472
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs2236861
rs2236861
3 0.882 0.080 1 28813244 intron variant G/A snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs581111
rs581111
1 1.000 0.080 1 28848861 intron variant A/G snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs950302
rs950302
1 1.000 0.080 1 167114567 intron variant A/G snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs965972
rs965972
1 1.000 0.080 1 193494720 intron variant G/A snv 0.86 0.010 1.000 1 2008 2008
dbSNP: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1867898
rs1867898
1 1.000 0.080 2 133762000 intergenic variant G/A snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1978340
rs1978340
1 1.000 0.080 2 170813611 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7597593
rs7597593
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs769395
rs769395
1 1.000 0.080 2 170860293 3 prime UTR variant G/A snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs9825563
rs9825563
2 1.000 0.080 3 114181373 intron variant A/G snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs1986513
rs1986513
1 1.000 0.080 4 125146073 intergenic variant A/T snv 8.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2018 2018
dbSNP: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1816071
rs1816071
2 0.925 0.080 5 161332949 intron variant T/C snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs265981
rs265981
3 0.925 0.080 5 175443899 5 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015