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: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.010 1.000 1 2003 2003
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
dbSNP: rs766001707
rs766001707
ATXN3
6 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866
B4GALT6
4 0.851 0.160 18 31681955 intron variant C/T snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs554521234
rs554521234
GAREM1
4 0.851 0.160 18 32231169 intron variant C/T snv 1.1E-02 0.010 1.000 1 2019 2019
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: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs550521638
rs550521638
NPPB
2 0.925 0.160 1 11858427 missense variant C/T snv 5.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T 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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.900 0.989 88 1984 2019
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.860 1.000 44 1986 2019
dbSNP: rs121918070
rs121918070
TTR
2 1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05 0.800 1.000 39 1986 2015
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.870 1.000 38 1986 2020
dbSNP: rs121918069
rs121918069
TTR
3 0.925 0.200 18 31595152 missense variant T/A;G snv 0.820 1.000 35 1986 2016
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.840 0.971 34 1986 2019
dbSNP: rs121918085
rs121918085
TTR
3 0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05 0.800 1.000 30 1986 2017
dbSNP: rs121918071
rs121918071
TTR
4 0.882 0.240 18 31595209 missense variant C/A snv 0.800 1.000 29 1986 2015
dbSNP: rs121918089
rs121918089
TTR
2 1.000 0.120 18 31598610 missense variant A/G snv 0.800 1.000 29 1986 2014
dbSNP: rs121918091
rs121918091
TTR
3 0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06 0.800 1.000 29 1986 2016
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