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: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.730 1.000 3 2010 2016
dbSNP: rs121908458
rs121908458
4 0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 0.710 1.000 1 2012 2012
dbSNP: rs1555631390
rs1555631390
TTR
4 0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 0.700 1.000 1 2018 2018
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.700 0
dbSNP: rs121908334
rs121908334
3 0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs267607485
rs267607485
DES
2 0.925 0.160 2 219425720 missense variant A/C snv 0.700 0
dbSNP: rs281865141
rs281865141
2 0.925 0.080 11 111911665 frameshift variant G/- delins 0.700 0
dbSNP: rs281865142
rs281865142
2 0.925 0.080 11 111908949 frameshift variant A/- del 4.0E-06 1.4E-05 0.700 0
dbSNP: rs28937597
rs28937597
2 0.925 0.080 5 137870821 missense variant C/T snv 0.700 0
dbSNP: rs41272699
rs41272699
DES
2 0.925 0.160 2 219420154 missense variant C/T snv 9.2E-03 1.0E-02 0.700 0
dbSNP: rs58898021
rs58898021
DES
3 0.925 0.160 2 219421385 missense variant G/C snv 0.700 0
dbSNP: rs60538473
rs60538473
DES
2 0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins 0.700 0
dbSNP: rs60798368
rs60798368
DES
2 0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs775180716
rs775180716
1 1.000 0.080 10 86692544 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs869320701
rs869320701
8 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
dbSNP: rs61130669
rs61130669
DES
2 0.925 0.160 2 219421511 missense variant G/T snv 0.020 1.000 2 2013 2017
dbSNP: rs869320740
rs869320740
5 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.020 1.000 2 2013 2014
dbSNP: rs121909518
rs121909518
3 0.882 0.120 7 128858475 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1264310581
rs1264310581
1 1.000 0.080 5 137870667 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs368434732
rs368434732
1 1.000 0.080 4 94587000 missense variant C/A;T snv 8.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs758552293
rs758552293
1 1.000 0.080 X 136209950 missense variant C/G;T snv 5.4E-06; 5.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs768941858
rs768941858
2 1.000 0.080 7 128854900 missense variant G/A snv 4.0E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs781565158
rs781565158
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.010 1.000 1 2018 2018