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: rs118203478
rs118203478
5 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs137852832
rs137852832
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs137852834
rs137852834
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs1553948516
rs1553948516
3 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
dbSNP: rs1555487316
rs1555487316
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs1567202189
rs1567202189
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0
dbSNP: rs1569492161
rs1569492161
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs530391015
rs530391015
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs771454167
rs771454167
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs886039813
rs886039813
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2013
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.020 1.000 2 2000 2015
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2003 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2003 2009
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2011 2011
dbSNP: rs12026
rs12026
6 0.827 0.240 7 95411704 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs12704795
rs12704795
1 1.000 0.080 7 95424695 intron variant T/G snv 0.34 0.010 1.000 1 2006 2006
dbSNP: rs1382048442
rs1382048442
2 0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs138207257
rs138207257
2 0.925 0.160 10 97611535 missense variant G/A;T snv 2.0E-05; 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs17319721
rs17319721
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2000 2000
dbSNP: rs188942711
rs188942711
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008