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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 43 1998 2019
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.040 1.000 4 1994 2020
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.040 1.000 4 2017 2019
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2010 2010
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: rs121918069
rs121918069
TTR
3 0.925 0.200 18 31595152 missense variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.010 1.000 1 2009 2009
dbSNP: rs121918086
rs121918086
TTR
3 1.000 0.120 18 31595160 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs145330026
rs145330026
DMPK
1 19 45778500 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.8E-04 0.010 1.000 1 2019 2019
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 2001 2001
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs746303115
rs746303115
TBP
3 0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs766001707
rs766001707
ATXN3
6 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs935577712
rs935577712
ATXN2
3 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019