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: rs115777110
rs115777110
3 0.882 0.040 1 208936211 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs188839109
rs188839109
3 0.882 0.040 11 2301859 start lost C/T snv 1.0E-02 9.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs4800149
rs4800149
3 0.882 0.040 18 23164290 intron variant C/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs13001243
rs13001243
3 0.882 0.040 2 234306004 regulatory region variant G/A snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs6703335
rs6703335
3 0.882 0.040 1 243445665 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2571521
rs2571521
3 0.882 0.040 9 26133810 intergenic variant C/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2009 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2009 2019
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs57646126
rs57646126
3 0.882 0.040 21 28959613 missense variant G/A snv 5.7E-02 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs679895
rs679895
3 0.882 0.040 5 29091578 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs142754383
rs142754383
3 0.882 0.040 12 30661250 missense variant T/C snv 3.0E-04 9.1E-04 0.700 1.000 1 2017 2017
dbSNP: rs74417947
rs74417947
3 0.882 0.040 20 37181711 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs138449918
rs138449918
3 0.882 0.040 2 39936810 intron variant AT/-;ATAT delins 0.700 1.000 1 2017 2017
dbSNP: rs6558872
rs6558872
3 0.882 0.040 8 4380617 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs138110
rs138110
2 0.925 0.040 22 43863901 upstream gene variant A/G snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs11125080
rs11125080
3 0.882 0.040 2 46505266 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2004 2010
dbSNP: rs2710323
rs2710323
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2013 2013
dbSNP: rs74796725
rs74796725
3 0.882 0.040 12 53187599 3 prime UTR variant G/T snv 1.2E-02 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10137071
rs10137071
2 0.925 0.040 14 54903622 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2997119
rs2997119
3 0.882 0.040 13 55819766 intergenic variant A/G snv 0.52 0.700 1.000 1 2017 2017