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: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
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: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.010 1.000 1 2003 2003
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: 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: 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: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 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: rs72922940
rs72922940
TTR
2 0.925 0.160 18 31590735 intron variant A/G snv 9.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1800458
rs1800458
TTR
5 0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02 0.020 0.500 2 2015 2016
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: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.800 1.000 22 1986 2014
dbSNP: rs1567945632
rs1567945632
TTR
1 1.000 0.120 18 31592938 missense variant G/A snv 0.700 1.000 8 1996 2015
dbSNP: rs121918098
rs121918098
TTR
7 0.807 0.200 18 31592939 missense variant A/G snv 0.800 1.000 29 1986 2014
dbSNP: rs121918093
rs121918093
TTR
4 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.800 1.000 22 1986 2014
dbSNP: rs11541790
rs11541790
TTR
1 1.000 0.120 18 31592956 missense variant C/T snv 7.0E-06 0.800 1.000 5 1995 2014
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.700 0
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: rs79977247
rs79977247
TTR
9 0.776 0.200 18 31592975 missense variant T/C;G snv 0.810 1.000 23 1986 2014
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.810 1.000 23 1986 2017
dbSNP: rs121918077
rs121918077
TTR
3 0.882 0.120 18 31592992 missense variant G/C snv 0.800 1.000 22 1986 2014
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.810 1.000 3 1994 2014
dbSNP: rs104894665
rs104894665
TTR
5 0.851 0.120 18 31593017 missense variant T/C snv 0.800 1.000 22 1986 2014
dbSNP: rs121918078
rs121918078
TTR
1 1.000 0.120 18 31593019 missense variant G/A snv 0.700 1.000 20 1986 2007
dbSNP: rs730881169
rs730881169
TTR
2 0.925 0.120 18 31593020 missense variant C/A;T snv 0.700 0