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: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs113993956
rs113993956
3 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019
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: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs116840778
rs116840778
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs119103263
rs119103263
19 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11974610
rs11974610
2 7 99930354 intron variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs121434508
rs121434508
3 1.000 0.120 11 85654139 stop gained C/T snv 3.2E-05 1.4E-05 0.010 1.000 1 2012 2012
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: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs12521798
rs12521798
2 5 79890115 intergenic variant T/C snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs12568757
rs12568757
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs1279417718
rs1279417718
2 1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1330512770
rs1330512770
2 7 55161592 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1413239
rs1413239
2 1 97221459 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs1418474769
rs1418474769
3 1.000 0.080 1 228157761 start lost G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs143473232
rs143473232
3 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1474642
rs1474642
2 6 170543473 intron variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1555937122
rs1555937122
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17183814
rs17183814
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
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