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: rs2736100
rs2736100
9 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.880 1.000 4 2009 2016
dbSNP: rs10937405
rs10937405
1 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.840 1.000 2 2010 2014
dbSNP: rs1051730
rs1051730
7 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.810 1.000 1 2009 2014
dbSNP: rs2495239
rs2495239
1 1.000 0.040 6 41522750 intron variant A/G snv 0.84 0.810 1.000 1 2012 2016
dbSNP: rs2853677
rs2853677
1 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.810 1.000 1 2012 2016
dbSNP: rs31489
rs31489
4 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.810 1.000 1 2009 2014
dbSNP: rs3817963
rs3817963
5 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.810 1.000 1 2012 2017
dbSNP: rs401681
rs401681
9 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.810 1.000 1 2009 2019
dbSNP: rs7216064
rs7216064
1 1.000 0.040 17 67902693 intron variant G/A snv 0.22 0.810 1.000 1 2012 2019
dbSNP: rs17391694
rs17391694
3 0.882 0.120 1 78157942 regulatory region variant C/T snv 7.8E-02 0.800 1.000 1 2009 2017
dbSNP: rs3117582
rs3117582
6 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.800 1.000 1 2009 2009
dbSNP: rs4324798
rs4324798
5 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.800 1.000 1 2009 2009
dbSNP: rs12914385
rs12914385
8 0.790 0.160 15 78606381 intron variant C/A;T snv 0.710 1.000 1 2009 2014
dbSNP: rs8042374
rs8042374
4 0.807 0.200 15 78615690 intron variant A/G snv 0.29 0.710 1.000 1 2009 2014
dbSNP: rs10519198
rs10519198
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1062980
rs1062980
4 0.827 0.080 15 78500185 3 prime UTR variant T/C snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs1150752
rs1150752
3 0.882 0.240 6 32096949 missense variant T/C;G snv 5.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs11638372
rs11638372
3 0.925 0.080 15 78691217 intron variant C/A;G;T snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs1235162
rs1235162
6 0.827 0.280 6 29569447 intron variant A/G snv 6.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs12441998
rs12441998
3 0.925 0.080 15 78637030 intron variant G/A snv 0.63 0.700 1.000 1 2009 2009
dbSNP: rs12503223
rs12503223
1 1.000 0.040 4 16841093 intron variant G/A snv 0.18 0.700 1.000 1 2009 2009
dbSNP: rs12594247
rs12594247
3 0.925 0.080 15 78654291 intron variant C/T snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs1270942
rs1270942
6 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs12910984
rs12910984
3 0.827 0.080 15 78599285 intron variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1316971
rs1316971
3 0.925 0.080 15 78638168 intron variant A/G;T snv 0.62 0.700 1.000 1 2009 2009