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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.980 101 2005 2019
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 1.000 11 2008 2017
dbSNP: rs706778
rs706778
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.810 0.750 4 2011 2019
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 3 2011 2019
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.810 1.000 3 2010 2019
dbSNP: rs864537
rs864537
4 0.925 0.200 1 167442147 intron variant A/G snv 0.29 0.810 1.000 2 2011 2013
dbSNP: rs6840978
rs6840978
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.800 1.000 2 2011 2019
dbSNP: rs1020388
rs1020388
2 5 56264200 upstream gene variant T/G snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs10892279
rs10892279
3 1.000 0.120 11 118741072 intron variant G/A;T snv 0.25 0.800 1.000 1 2011 2011
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs11984075
rs11984075
2 7 37397251 intron variant A/G snv 0.14 0.800 1.000 1 2011 2011
dbSNP: rs1772408
rs1772408
2 1 159035859 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs1876518
rs1876518
2 2 65381775 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs1953126
rs1953126
3 1.000 0.120 9 120878222 intron variant T/C snv 0.68 0.800 1.000 1 2011 2011
dbSNP: rs2298428
rs2298428
9 0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18 0.800 1.000 1 2011 2011
dbSNP: rs653178
rs653178
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.800 1.000 1 2011 2011
dbSNP: rs7579944
rs7579944
5 0.882 0.200 2 30222160 intergenic variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs975730
rs975730
2 8 128303768 intergenic variant G/A snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.750 0.833 6 2013 2019
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.730 1.000 4 2011 2017
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.720 1.000 3 2010 2013
dbSNP: rs13151961
rs13151961
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.710 1.000 2 2010 2011
dbSNP: rs1678542
rs1678542
9 0.790 0.320 12 57574932 intron variant C/G snv 0.42 0.710 1.000 2 2011 2015
dbSNP: rs2056626
rs2056626
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.710 1.000 2 2011 2013
dbSNP: rs2816316
rs2816316
5 0.882 0.200 1 192567683 intron variant C/A snv 0.79 0.710 1.000 2 2011 2017