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: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs2516049
rs2516049
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs477515
rs477515
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs652888
rs652888
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2013 2013
dbSNP: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs3115663
rs3115663
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130618
rs3130618
7 0.827 0.360 6 31664357 missense variant C/A;T snv 0.15; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs7192
rs7192
7 0.827 0.200 6 32443869 missense variant T/G snv 0.64 0.61 0.700 1.000 1 2013 2013
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs2239804
rs2239804
5 0.851 0.240 6 32443746 intron variant T/A;C snv 0.51 0.700 1.000 1 2013 2013
dbSNP: rs2395182
rs2395182
5 0.851 0.280 6 32445540 downstream gene variant G/T snv 0.76 0.700 1.000 1 2013 2013
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs204994
rs204994
4 0.925 0.120 6 32187221 non coding transcript exon variant C/T snv 0.18 0.21 0.700 1.000 1 2013 2013
dbSNP: rs2227139
rs2227139
4 0.925 0.160 6 32445682 downstream gene variant G/A snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs2239802
rs2239802
4 0.882 0.200 6 32444069 intron variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2239803
rs2239803
4 0.882 0.240 6 32444056 intron variant C/A;T snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2854275
rs2854275
4 0.925 0.120 6 32660651 non coding transcript exon variant C/A snv 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs3129888
rs3129888
4 0.882 0.240 6 32443949 intron variant G/A snv 0.82 0.80 0.700 1.000 1 2013 2013
dbSNP: rs9268832
rs9268832
4 0.882 0.160 6 32460012 non coding transcript exon variant T/C snv 0.61 0.59 0.700 1.000 1 2013 2013
dbSNP: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013