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: 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: 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: 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: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
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: rs734553
rs734553
7 0.851 0.240 4 9921380 intron variant G/A;T snv 0.010 1.000 1 2015 2015
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: 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: 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