Source: ALL
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: rs119103263
rs119103263
19 0.821 0.143 1 11992659 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
18 0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05 0.700 1 2015 2015
dbSNP: rs121912855
rs121912855
19 0.821 0.107 3 48575218 missense variant G/A snp 2.0E-05 0.700 1 2015 2015
dbSNP: rs587781245
rs587781245
2 0.923 0.107 6 148533885 missense variant G/A snp 6.8E-05 6.4E-05 0.700 1 2016 2016
dbSNP: rs9282858
rs9282858
10 0.744 0.250 2 31580756 missense variant C/T snp 1.8E-02 2.0E-02 0.020 1.000 2 2007 2013
dbSNP: rs111033258
rs111033258
4 0.878 0.214 3 150972565 missense variant A/C snp 2.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs111238176
rs111238176
4 0.846 0.143 1 172665840 missense variant A/G snp 0.010 1.000 1 2011 2011
dbSNP: rs116855232
rs116855232
5 0.846 0.179 13 48045719 missense variant C/T snp 2.8E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs189107290
rs189107290
3 0.878 0.143 7 99666990 missense variant A/C snp 0.010 1.000 1 2013 2013
dbSNP: rs199473704
rs199473704
5 0.878 0.071 17 3524224 missense variant C/A,T snp 0.010 1.000 1 2008 2008
dbSNP: rs201868115
rs201868115
3 0.878 0.071 3 185519286 missense variant G/T snp 9.5E-05 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs2294020
rs2294020
2 0.923 0.143 X 49246763 synonymous variant A/G,T snp 0.39 0.39 0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.010 1.000 1 2008 2008
dbSNP: rs267607477
rs267607477
2 0.923 0.071 12 52567115 missense variant C/T snp 0.010 1.000 1 2011 2011
dbSNP: rs378299
rs378299
2 0.923 0.143 21 44241460 regulatory region variant C/T snp 0.58 0.010 1.000 1 2014 2014
dbSNP: rs3820706
rs3820706
1 1.000 0.071 2 152100897 intron variant T/C snp 0.18 0.010 1.000 1 2014 2014
dbSNP: rs523349
rs523349
22 0.662 0.429 2 31580636 missense variant G/A,C,T snp 0.66; 4.9E-06 0.70 0.010 1.000 1 2013 2013
dbSNP: rs6152
rs6152
AR
9 0.769 0.179 X 67545785 synonymous variant G/A snp 0.15 0.27 0.010 1.000 1 2007 2007
dbSNP: rs72561723
rs72561723
6 0.801 0.214 13 20189448 missense variant C/T snp 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs754172970
rs754172970
3 0.878 0.143 17 7630473 missense variant G/A snp 1.6E-05 0.010 1.000 1 2007 2007