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: rs2071464
rs2071464
2 0.925 0.040 6 32841299 intron variant G/A snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs997050266
rs997050266
4 0.851 0.120 19 45423352 missense variant T/A;C snv 1.4E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs1135216
rs1135216
6 0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18 0.020 0.500 2 2014 2017
dbSNP: rs11966200
rs11966200
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.810 0.500 2 2010 2013
dbSNP: rs13208776
rs13208776
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.810 0.500 2 2010 2011
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.860 0.900 10 2005 2018
dbSNP: rs706779
rs706779
5 0.827 0.160 10 6056861 intron variant T/C snv 0.48 0.810 1.000 5 2010 2016
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.810 1.000 4 2010 2015
dbSNP: rs229527
rs229527
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.800 1.000 4 2010 2016
dbSNP: rs8192917
rs8192917
3 0.925 0.040 14 24632954 missense variant C/T snv 0.76 0.72 0.810 1.000 4 2010 2018
dbSNP: rs1393350
rs1393350
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 3 2010 2012
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.820 1.000 3 2010 2012
dbSNP: rs11021232
rs11021232
1 1.000 0.040 11 95587644 intron variant T/C snv 0.14 0.800 1.000 2 2012 2016
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.800 1.000 2 2010 2012
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2013 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs12206499
rs12206499
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs13076312
rs13076312
LPP
2 1.000 0.040 3 188371466 intron variant C/T snv 0.44 0.800 1.000 2 2010 2016
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.800 1.000 2 2012 2016
dbSNP: rs2456973
rs2456973
4 0.925 0.040 12 56023144 intron variant A/C;G snv 0.810 1.000 2 2012 2015
dbSNP: rs3213758
rs3213758
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.820 1.000 2 2013 2015
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs3806156
rs3806156
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.800 1.000 2 2010 2012