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: rs10137071
rs10137071
2 0.925 0.040 14 54903622 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
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: rs149740908
rs149740908
2 0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 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: rs2067477
rs2067477
3 0.882 0.080 11 62910834 synonymous variant G/T snv 0.11 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs2229113
rs2229113
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2007 2007
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2016 2016
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2005 2005
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: 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: rs105633
rs105633
3 0.882 0.040 5 141945684 synonymous variant T/C;G snv 0.98; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs11125080
rs11125080
3 0.882 0.040 2 46505266 intron variant G/A;C snv 0.700 1.000 1 2017 2017
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: rs12052005
rs12052005
3 0.882 0.040 18 68832311 intron variant G/C;T snv 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: rs137928907
rs137928907
3 0.882 0.040 12 130827204 missense variant A/C snv 1.4E-02 1.5E-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: 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