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: rs200640958
rs200640958
1 1.000 0.080 11 101471303 synonymous variant G/A;C snv 8.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs754919065
rs754919065
1 1.000 0.080 11 101504767 missense variant G/A snv 6.1E-05; 4.1E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs104886303
rs104886303
4 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.750 8 2000 2013
dbSNP: rs1042636
rs1042636
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2002 2002
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2008 2015
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2008 2015
dbSNP: rs760336723
rs760336723
3 0.882 0.240 7 131506292 missense variant G/A snv 2.8E-05 5.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs367825197
rs367825197
2 0.925 0.080 7 131509412 stop gained G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 < 0.001 1 2008 2008
dbSNP: rs11739136
rs11739136
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs3024912
rs3024912
2 0.925 0.120 2 191028361 intron variant A/C snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs188942711
rs188942711
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4281481
rs4281481
3 0.882 0.080 11 22859013 intron variant C/G snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2003 2003
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.010 1.000 1 2006 2006
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs437168
rs437168
2 1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs2285450
rs2285450
1 1.000 0.080 19 35851365 synonymous variant G/A snv 2.2E-02 4.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs4821480
rs4821480
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs2032487
rs2032487
3 0.882 0.080 22 36299382 intron variant C/T snv 0.78 0.020 1.000 2 2009 2012
dbSNP: rs4821481
rs4821481
1 1.000 0.080 22 36299896 intron variant C/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs3752462
rs3752462
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012