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: rs372949028
rs372949028
4 0.923 0.179 22 20061684 splice donor variant G/A snp 7.1E-05 0.700 1 2016 2016
dbSNP: rs752298579
rs752298579
3 0.923 0.179 22 20061538 missense variant G/A snp 1.4E-04 0.700 1 2016 2016
dbSNP: rs765556214
rs765556214
1 1.000 0.179 11 105933765 missense variant G/A snp 1.6E-05 0.700 1 2018 2018
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: rs28934908
rs28934908
21 0.715 0.250 X 154031409 missense variant G/A,T snp 5.5E-06 0.020 0.500 2 2002 2002
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: 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: rs199469705
rs199469705
3 0.923 0.179 19 14564841 missense variant C/T snp 0.010 1.000 1 2014 2014
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: rs587777696
rs587777696
3 0.923 0.286 9 4585316 missense variant C/T snp 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs61748392
rs61748392
7 0.801 0.214 X 154031418 missense variant T/C snp 0.010 1.000 1 2001 2001
dbSNP: rs61748420
rs61748420
8 0.784 0.214 X 154031329 missense variant G/A,T snp 0.010 1.000 1 2001 2001
dbSNP: rs61749735
rs61749735
3 0.923 0.179 X 154031162 synonymous variant G/A,C snp 5.4E-06; 3.8E-05 0.010 1.000 1 2006 2006