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: rs1370031102
rs1370031102
1 1.000 0.080 4 87982700 missense variant C/T snv 4.0E-06 7.0E-06 0.020 0.500 2 2002 2017
dbSNP: rs1172908852
rs1172908852
NPL
1 1.000 0.080 1 182822176 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs35979293
rs35979293
2 0.925 0.080 16 28933379 synonymous variant G/A;T snv 3.2E-05; 0.30 0.010 1.000 1 2002 2002
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.972 36 2004 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.050 0.800 5 2004 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.750 4 2004 2016
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.030 0.667 3 2004 2013
dbSNP: rs34751757
rs34751757
3 0.882 0.160 12 6333790 missense variant G/A;T snv 1.0E-04 0.020 1.000 2 2004 2004
dbSNP: rs369861029
rs369861029
1 1.000 0.080 9 35612990 missense variant G/A snv 7.0E-06 0.020 1.000 2 2004 2006
dbSNP: rs104895257
rs104895257
1 1.000 0.080 12 6333441 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs12938
rs12938
5 0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2005 2005
dbSNP: rs3219018
rs3219018
2 1.000 0.080 1 161662856 upstream gene variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.060 1.000 6 2006 2017
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.030 1.000 3 2006 2008
dbSNP: rs315952
rs315952
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.020 0.500 2 2006 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 0.500 2 2006 2013
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs231726
rs231726
7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.010 1.000 1 2006 2006
dbSNP: rs756312947
rs756312947
2 1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006