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: rs28931605
rs28931605
9 0.769 0.179 2 208124294 missense variant G/A,T snp 4.2E-06; 1.3E-05 3.2E-05 0.030 1.000 3 2005 2016
dbSNP: rs104893736
rs104893736
6 0.821 0.036 3 186539566 missense variant C/A snp 0.020 1.000 2 2009 2016
dbSNP: rs104894201
rs104894201
9 0.784 0.286 11 111908934 missense variant T/C snp 0.020 1.000 2 2011 2015
dbSNP: rs3754334
rs3754334
3 0.878 0.036 1 16125272 synonymous variant G/A snp 0.28 0.22 0.020 < 0.001 2 2012 2014
dbSNP: rs104893685
rs104893685
3 0.878 0.036 3 133450432 missense variant C/A,T snp 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs1050828
rs1050828
12 0.846 0.143 X 154536002 missense variant C/T snp 9.1E-03 3.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs1050829
rs1050829
3 0.878 0.143 X 154535277 missense variant T/A,C snp 1.7E-04; 2.6E-02 8.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs11260867
rs11260867
2 1.000 0.036 1 16115233 intergenic variant C/G snp 0.13 0.010 1.000 1 2012 2012
dbSNP: rs113624356
rs113624356
8 0.784 0.107 11 66526181 missense variant T/G snp 1.5E-03 2.0E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs11615
rs11615
23 0.667 0.286 19 45420395 synonymous variant A/G snp 0.50 0.54 0.010 1.000 1 2017 2017
dbSNP: rs118203966
rs118203966
3 0.878 0.036 20 33851064 missense variant G/A snp 0.010 1.000 1 2007 2007
dbSNP: rs121909595
rs121909595
6 0.821 0.036 2 208124321 missense variant G/A snp 0.010 1.000 1 2009 2009
dbSNP: rs121909596
rs121909596
6 0.821 0.036 2 208124188 missense variant C/T snp 0.010 1.000 1 2012 2012
dbSNP: rs121917867
rs121917867
MIP
4 0.846 0.071 12 56453703 missense variant G/A,C snp 4.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs121917869
rs121917869
MIP
4 0.846 0.071 12 56453715 missense variant T/C,G snp 0.010 1.000 1 2001 2001
dbSNP: rs137853924
rs137853924
4 0.846 0.179 2 208128343 missense variant C/A,T snp 0.010 1.000 1 2012 2012
dbSNP: rs139787163
rs139787163
1 1.000 0.036 1 16125271 missense variant C/T snp 4.8E-04 2.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs147994059
rs147994059
1 1.000 0.036 17 29250258 missense variant G/A,C,T snp 1.1E-03; 4.0E-06 9.2E-04; 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs150516929
rs150516929
6 0.821 0.214 11 111908832 missense variant C/T snp 9.1E-04 8.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs2070074
rs2070074
12 0.744 0.286 9 34649445 missense variant A/G snp 9.2E-02 7.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs2165241
rs2165241
7 0.784 0.143 15 73929861 intron variant T/C snp 0.60 0.010 1.000 1 2015 2015
dbSNP: rs370424081
rs370424081
2 0.923 0.036 17 35183460 missense variant C/G,T snp 6.2E-05 9.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs375933774
rs375933774
2 0.923 0.036 11 111911691 missense variant G/A snp 2.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs3825942
rs3825942
8 0.769 0.286 15 73927241 missense variant G/A,C,T snp 0.18; 4.5E-06 0.22 0.010 1.000 1 2015 2015
dbSNP: rs398122937
rs398122937
3 0.878 0.036 13 20142862 missense variant C/T snp 0.010 1.000 1 2014 2014