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: rs393152
rs393152
7 0.851 0.160 17 45641777 non coding transcript exon variant A/G snv 0.18 0.29 0.810 1.000 4 2009 2015
dbSNP: rs11248060
rs11248060
1 1.000 0.040 4 970571 intron variant C/T snv 9.3E-02 0.810 1.000 3 2012 2013
dbSNP: rs34372695
rs34372695
1 1.000 0.040 1 156060246 upstream gene variant C/G;T snv 1.5E-02 0.810 1.000 3 2011 2012
dbSNP: rs4538475
rs4538475
2 1.000 0.040 4 15736314 intron variant A/G snv 0.24 0.810 1.000 3 2009 2012
dbSNP: rs6599388
rs6599388
1 1.000 0.040 4 945299 intron variant C/T snv 0.28 0.810 1.000 3 2011 2015
dbSNP: rs2338971
rs2338971
1 1.000 0.040 1 101414449 intergenic variant T/A;C snv 0.810 1.000 2 2014 2016
dbSNP: rs2823357
rs2823357
1 1.000 0.040 21 15542586 intron variant G/A snv 0.48 0.810 0.500 2 2011 2019
dbSNP: rs4964469
rs4964469
1 1.000 0.040 12 106556209 intron variant G/A snv 0.46 0.810 1.000 1 2011 2011
dbSNP: rs8070723
rs8070723
7 0.851 0.240 17 46003698 intron variant A/G snv 0.18 0.800 1.000 5 2009 2014
dbSNP: rs11012
rs11012
2 1.000 0.040 17 45436075 3 prime UTR variant C/T snv 0.13 0.13 0.800 1.000 4 2009 2012
dbSNP: rs1491942
rs1491942
1 1.000 0.040 12 40227006 intron variant C/G snv 0.23 0.800 1.000 4 2011 2014
dbSNP: rs183211
rs183211
4 0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30 0.800 1.000 4 2009 2012
dbSNP: rs199533
rs199533
4 0.925 0.120 17 46751565 synonymous variant G/A snv 0.13 0.13 0.800 1.000 4 2009 2012
dbSNP: rs356203
rs356203
1 1.000 0.040 4 89744890 intron variant C/T snv 0.54 0.800 1.000 3 2011 2019
dbSNP: rs28903073
rs28903073
1 1.000 0.040 12 40259708 intron variant G/A snv 2.4E-03 0.800 1.000 2 2011 2016
dbSNP: rs4130047
rs4130047
2 0.925 0.080 18 43098270 intron variant T/A;C snv 0.800 1.000 2 2011 2016
dbSNP: rs415430
rs415430
3 1.000 0.040 17 46781778 intron variant C/T snv 0.84 0.800 1.000 2 2011 2011
dbSNP: rs6532197
rs6532197
1 1.000 0.040 4 89876150 upstream gene variant A/G snv 0.16 0.800 1.000 2 2009 2012
dbSNP: rs6710823
rs6710823
1 1.000 0.040 2 134834811 intron variant G/A snv 0.23 0.800 1.000 2 2011 2012
dbSNP: rs10513789
rs10513789
1 1.000 0.040 3 183042285 intron variant T/G snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs10519131
rs10519131
1 1.000 0.040 15 61708933 intron variant A/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10877840
rs10877840
1 1.000 0.040 12 39959194 intron variant T/C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs11865038
rs11865038
1 1.000 0.040 16 31083850 3 prime UTR variant C/T snv 0.42 0.46 0.800 1.000 1 2012 2012
dbSNP: rs12063142
rs12063142
1 1.000 0.040 1 18813023 intergenic variant C/T snv 0.28 0.800 1.000 1 2010 2010
dbSNP: rs12726330
rs12726330
1 1.000 0.040 1 155135691 splice region variant G/A;C snv 1.1E-02; 3.4E-05 0.800 1.000 1 2012 2012