Source: ALL
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: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.700 0
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.700 0
dbSNP: rs730881163
rs730881163
TTR
3 0.882 0.160 18 31595155 missense variant C/A snv 0.700 0
dbSNP: rs730881167
rs730881167
TTR
2 0.925 0.120 18 31598638 missense variant A/C snv 0.700 0
dbSNP: rs730881169
rs730881169
TTR
2 0.925 0.120 18 31593020 missense variant C/A;T snv 0.700 0
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.700 0
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.010 1.000 1 1995 1995
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121918078
rs121918078
TTR
1 1.000 0.120 18 31593019 missense variant G/A snv 0.700 1.000 20 1986 2007
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.700 1.000 20 1986 2007
dbSNP: rs144965179
rs144965179
TTR
1 1.000 0.120 18 31598662 missense variant A/G snv 1.2E-05 2.8E-05 0.700 1.000 20 1986 2007
dbSNP: rs1456101911
rs1456101911
TTR
1 1.000 0.120 18 31598608 splice donor variant C/A;T snv 0.700 1.000 20 1986 2007
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.020 1.000 2 2011 2011
dbSNP: rs121918076
rs121918076
TTR
3 0.882 0.120 18 31595129 missense variant T/A;C;G snv 0.700 1.000 12 1990 2013
dbSNP: rs121918089
rs121918089
TTR
2 1.000 0.120 18 31598610 missense variant A/G snv 0.800 1.000 29 1986 2014
dbSNP: rs121918098
rs121918098
TTR
7 0.807 0.200 18 31592939 missense variant A/G snv 0.800 1.000 29 1986 2014
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.830 1.000 27 1986 2014
dbSNP: rs121918083
rs121918083
TTR
1 1.000 0.120 18 31592914 missense variant T/C snv 7.0E-06 0.800 1.000 26 1986 2014
dbSNP: rs121918072
rs121918072
TTR
1 1.000 0.120 18 31595230 missense variant T/G snv 0.800 1.000 25 1986 2014
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.810 1.000 23 1986 2014
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.810 1.000 23 1986 2014
dbSNP: rs79977247
rs79977247
TTR
9 0.776 0.200 18 31592975 missense variant T/C;G snv 0.810 1.000 23 1986 2014