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: rs1799941
rs1799941
11 0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18 0.010 < 0.001 1 2011 2011
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 < 0.001 1 2019 2019
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 < 0.001 1 2012 2012
dbSNP: rs200027152
rs200027152
2 0.925 0.120 11 73975612 missense variant C/T snv 8.0E-05 4.9E-05 0.010 < 0.001 1 1998 1998
dbSNP: rs201777403
rs201777403
2 0.925 0.120 5 148827105 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs201844852
rs201844852
2 0.925 0.080 1 157135581 missense variant C/G snv 4.8E-05 4.2E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs2073438
rs2073438
2 0.925 0.160 17 6996757 intron variant G/A snv 0.20 0.010 < 0.001 1 2011 2011
dbSNP: rs225011
rs225011
2 0.925 0.120 14 80205865 intron variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs225015
rs225015
5 0.882 0.160 14 80201236 3 prime UTR variant G/A snv 0.37 0.010 < 0.001 1 2012 2012
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs2295632
rs2295632
1 1.000 0.080 1 46413890 downstream gene variant T/G snv 0.60 0.010 < 0.001 1 2010 2010
dbSNP: rs2302870
rs2302870
2 0.925 0.120 2 207088682 intron variant T/C;G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs2441666
rs2441666
1 1.000 0.080 9 63957 intron variant C/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2815752
rs2815752
7 0.925 0.200 1 72346757 intron variant G/A snv 0.62 0.010 < 0.001 1 2012 2012
dbSNP: rs2844479
rs2844479
5 0.925 0.200 6 31605179 intergenic variant A/C snv 0.34 0.010 < 0.001 1 2013 2013
dbSNP: rs373154589
rs373154589
1 1.000 0.080 1 65616036 missense variant G/C snv 8.0E-06 1.4E-05 0.010 < 0.001 1 1998 1998
dbSNP: rs3745318
rs3745318
2 1.000 0.080 19 16325451 missense variant T/C snv 0.75 0.82 0.010 < 0.001 1 2006 2006
dbSNP: rs3748050
rs3748050
1 1.000 0.080 6 35797291 splice donor variant T/C snv 0.25 0.26 0.010 < 0.001 1 2009 2009
dbSNP: rs3748051
rs3748051
1 1.000 0.080 6 35797166 intron variant T/C snv 0.23 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs4450508
rs4450508
2 0.925 0.120 18 60246201 intergenic variant G/A snv 0.31 0.010 < 0.001 1 2009 2009
dbSNP: rs4638289
rs4638289
2 1.000 0.080 11 18264227 upstream gene variant A/T snv 0.67 0.010 < 0.001 1 2009 2009
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.710 < 0.001 1 2009 2009
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs477181
rs477181
1 1.000 0.080 18 60228805 intergenic variant G/A;T snv 0.010 < 0.001 1 2009 2009
dbSNP: rs4788102
rs4788102
6 0.851 0.160 16 28862077 intron variant G/A snv 0.34 0.010 < 0.001 1 2013 2013