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: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.900 0.889 18 2007 2018
dbSNP: rs2305480
rs2305480
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.860 0.900 10 2008 2018
dbSNP: rs11078927
rs11078927
3 0.925 0.080 17 39908152 intron variant C/T snv 0.40 0.35 0.820 1.000 5 2011 2018
dbSNP: rs2290400
rs2290400
9 0.790 0.360 17 39909987 intron variant T/C snv 0.48 0.820 1.000 5 2010 2016
dbSNP: rs1008723
rs1008723
3 0.925 0.160 17 39910014 intron variant G/C;T snv 0.800 1.000 2 2011 2019
dbSNP: rs2305479
rs2305479
4 0.882 0.160 17 39905964 missense variant C/T snv 0.43 0.39 0.800 1.000 2 2011 2018
dbSNP: rs869402
rs869402
3 0.925 0.160 17 39911790 intron variant T/A;C snv 0.800 1.000 2 2011 2018
dbSNP: rs4795400
rs4795400
3 0.925 0.080 17 39910767 intron variant C/T snv 0.36 0.710 1.000 2 2008 2011
dbSNP: rs4795399
rs4795399
2 0.925 0.080 17 39905186 intron variant T/C snv 0.35 0.700 1.000 2 2019 2019
dbSNP: rs117097909
rs117097909
2 0.925 0.080 17 39908718 intron variant G/A snv 4.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs201413617
rs201413617
1 1.000 0.080 17 39917590 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7219923
rs7219923
4 0.882 0.160 17 39918265 non coding transcript exon variant C/T snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs7224129
rs7224129
3 0.925 0.160 17 39919173 non coding transcript exon variant G/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs9303280
rs9303280
2 1.000 0.080 17 39917778 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs9303281
rs9303281
4 0.882 0.160 17 39917793 non coding transcript exon variant G/A snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs11078928
rs11078928
2 0.925 0.160 17 39908216 splice acceptor variant T/A;C snv 0.40 0.030 1.000 3 2013 2018