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: rs1556488264
rs1556488264
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs1559931177
rs1559931177
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1563518388
rs1563518388
2 1.000 8 81444908 missense variant A/G snv 0.700 0
dbSNP: rs1565538350
rs1565538350
7 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
dbSNP: rs28928910
rs28928910
11 0.827 0.200 8 24956452 missense variant G/A;T snv 0.700 0
dbSNP: rs377504835
rs377504835
1 12 120438230 splice donor variant G/A;C snv 4.0E-06; 4.9E-05 0.700 0
dbSNP: rs397507478
rs397507478
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs72653786
rs72653786
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
dbSNP: rs761665644
rs761665644
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs769405586
rs769405586
6 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs777219451
rs777219451
1 2 232540617 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs781939614
rs781939614
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs794728588
rs794728588
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 1996 1996
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 2001 2001
dbSNP: rs104894619
rs104894619
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2003 2003
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009