Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs267607161
TTR
0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 16
rs11541796
TTR
0.807 0.280 18 31593011 missense variant A/G snv 9
rs79977247
TTR
0.776 0.200 18 31592975 missense variant T/C;G snv 9
rs140226130
CCDC178
0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 8
rs10163755
DSG4 ; DSG1-AS1
0.827 0.200 18 31405413 intron variant G/A snv 0.74 6
rs121918082
TTR
0.827 0.280 18 31595244 missense variant G/C snv 6
rs121918095
TTR
0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 6
rs958191819
TTR
0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 6
rs1800458
TTR
0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02 5
rs2949506 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 5
rs376961112
GSN
0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 4
rs554521234
GAREM1
0.851 0.160 18 32231169 intron variant C/T snv 1.1E-02 4
rs970866
B4GALT6
0.851 0.160 18 31681955 intron variant C/T snv 0.89 4
rs121918085
TTR
0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05 3
rs730881163
TTR
0.882 0.160 18 31595155 missense variant C/A snv 3
rs550521638
NPPB
0.925 0.160 1 11858427 missense variant C/T snv 5.0E-06 2
rs72922940
TTR
0.925 0.160 18 31590735 intron variant A/G snv 9.8E-02 2