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: 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: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
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: 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: rs2299682
rs2299682
3 0.882 0.040 20 9448697 intron variant A/G snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs2997119
rs2997119
3 0.882 0.040 13 55819766 intergenic variant A/G snv 0.52 0.700 1.000 1 2017 2017
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: rs506597
rs506597
4 0.882 0.040 7 100715797 upstream gene variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs61945387
rs61945387
3 0.882 0.040 12 117921609 intron variant A/G snv 7.7E-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: rs981975
rs981975
2 0.925 0.040 14 72119843 intron variant A/G snv 0.44 0.700 1.000 1 2016 2016
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: rs221774
rs221774
4 0.851 0.080 7 100701361 upstream gene variant A/G;T snv 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: rs4800149
rs4800149
3 0.882 0.040 18 23164290 intron variant C/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs75583333
rs75583333
2 0.925 0.040 5 160168028 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs221798
rs221798
3 0.882 0.040 7 100689872 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs4470690
rs4470690
2 0.925 0.040 4 187800358 intergenic variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7766730
rs7766730
3 0.882 0.040 6 65987110 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
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: rs56031956
rs56031956
3 0.882 0.040 9 108863349 missense variant C/G snv 2.3E-02 2.2E-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: 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: 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