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: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs7190256
rs7190256
ZFHX3
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs12369179
rs12369179
ZCCHC8
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.060 0.833 6 2012 2019
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs12564445
rs12564445
TNNT2
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.020 1.000 2 2015 2015
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.020 1.000 2 2015 2015
dbSNP: rs7311358
rs7311358
SLCO1B3 ; SLCO1B3-SLCO1B7
6 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 0.010 1.000 1 2019 2019
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6759518
rs6759518
SLC30A3
16 0.851 0.120 2 27263727 intron variant G/C snv 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs7115242
rs7115242
SIK3
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs762151808
rs762151808
SERPINA1
2 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7632505
rs7632505
SEMA5B
17 0.827 0.120 3 123019460 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs1805126
rs1805126
SCN5A
2 0.925 0.040 3 38550915 synonymous variant A/G snv 0.39 0.44 0.010 1.000 1 2018 2018
dbSNP: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs121918598
rs121918598
RYR2
4 0.851 0.080 1 237648523 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.010 1.000 1 2015 2015