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: rs11078927
rs11078927
3 0.925 0.080 17 39908152 intron variant C/T snv 0.40 0.35 0.010 1.000 1 2013 2013
dbSNP: rs1344110
rs1344110
1 1.000 0.040 21 44852737 intron variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs4794820
rs4794820
9 0.790 0.160 17 39933091 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs8034191
rs8034191
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11650680
rs11650680
5 0.827 0.120 17 40422984 intergenic variant C/T snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2000 2000
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2005 2013
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2000 2000
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2002 2002
dbSNP: rs201256810
rs201256810
2 0.925 0.080 2 102348073 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2280090
rs2280090
4 0.882 0.120 20 3669558 missense variant G/A snv 0.13 0.14 0.010 1.000 1 2009 2009
dbSNP: rs2305480
rs2305480
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.010 1.000 1 2013 2013
dbSNP: rs3918396
rs3918396
5 0.851 0.120 20 3671118 missense variant C/T snv 5.1E-05; 7.6E-02 6.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs528557
rs528557
6 0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29 0.010 1.000 1 2009 2009
dbSNP: rs345983
rs345983
1 1.000 0.040 4 139717809 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2009 2009