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: rs28934908
rs28934908
21 0.715 0.250 X 154031409 missense variant G/A,T snp 5.5E-06 0.060 0.667 6 2002 2017
dbSNP: rs121918368
rs121918368
3 0.923 0.179 3 3150939 stop gained G/A snp 8.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 1.000 2 2009 2009
dbSNP: rs10410239
rs10410239
2 1.000 0.179 19 13919876 synonymous variant T/C snp 0.27 0.36 0.010 1.000 1 2012 2012
dbSNP: rs104886492
rs104886492
3 0.923 0.143 X 53432410 missense variant A/G snp 0.010 1.000 1 2012 2012
dbSNP: rs115466046
rs115466046
2 1 160042480 missense variant C/T snp 1.2E-02 1.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs121434622
rs121434622
4 0.923 0.179 X 147936534 missense variant T/A snp 0.010 1.000 1 2005 2005
dbSNP: rs121918364
rs121918364
6 0.821 0.179 X 100662227 missense variant A/C snp 3.3E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918523
rs121918523
3 0.923 0.179 X 54016662 stop gained T/A snp 0.010 1.000 1 2007 2007
dbSNP: rs121918524
rs121918524
6 0.821 0.179 X 54011232 missense variant A/G snp 0.010 1.000 1 2010 2010
dbSNP: rs121965020
rs121965020
6 0.821 0.250 4 987858 stop gained C/T snp 4.7E-04 7.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs122460151
rs122460151
6 0.821 0.250 X 2958423 missense variant C/G snp 7.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs122468181
rs122468181
3 0.923 0.179 X 119837771 stop gained G/A,T snp 0.010 1.000 1 2013 2013
dbSNP: rs132630328
rs132630328
GK
3 0.923 0.179 X 30720721 missense variant A/G,T snp 5.4E-06 0.010 1.000 1 1996 1996
dbSNP: rs140032597
rs140032597
3 1.000 0.179 X 119837923 missense variant C/T snp 6.6E-05 4.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs140646329
rs140646329
2 1 160042283 missense variant C/T snp 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs199469705
rs199469705
3 0.923 0.179 19 14564841 missense variant C/T snp 0.010 1.000 1 2014 2014
dbSNP: rs201280801
rs201280801
3 1.000 0.107 1 39967668 missense variant T/C snp 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs225010
rs225010
2 1.000 0.179 14 80205936 intron variant C/T snp 0.49 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012
2 1.000 0.179 14 80204392 intron variant A/G snp 0.50 0.010 1.000 1 2004 2004
dbSNP: rs2276382
rs2276382
TTR
2 1.000 0.179 18 31598648 synonymous variant G/A snp 3.4E-03 1.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs255012
rs255012
2 1.000 0.179 7 41189487 regulatory region variant T/A,C snp 3.2E-05; 0.74 0.010 1.000 1 2004 2004
dbSNP: rs267607165
rs267607165
13 0.756 0.357 16 89935679 missense variant G/A,C snp 0.010 1.000 1 2013 2013
dbSNP: rs35693326
rs35693326
1 X 18653446 missense variant G/A,T snp 8.5E-03; 5.5E-06 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs370304886
rs370304886
1 9 128582740 missense variant G/A,C snp 4.0E-06 0.010 1.000 1 2012 2012