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: rs10097505
rs10097505
ARC
2 0.925 0.120 8 142612823 3 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs10163755
rs10163755
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs104894665
rs104894665
TTR
5 0.851 0.120 18 31593017 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs104895219
rs104895219
5 0.827 0.240 12 6333823 missense variant G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs1217777010
rs1217777010
1 1.000 0.040 11 116836182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121909211
rs121909211
15 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs121909612
rs121909612
FGA
6 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121913547
rs121913547
LYZ
7 0.807 0.200 12 69350192 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121913549
rs121913549
LYZ
3 0.882 0.200 12 69350194 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.010 1.000 1 1994 1994
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2006 2006
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs12218
rs12218
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1264519280
rs1264519280
2 1.000 0.040 1 32014083 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1294297409
rs1294297409
TTR
1 1.000 0.040 18 31592996 missense variant C/A snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs13031703
rs13031703
2 0.925 0.120 2 127129099 intergenic variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs1309900188
rs1309900188
GSN
1 1.000 0.040 9 121312342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1335856860
rs1335856860
FAP
2 0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs140226130
rs140226130
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1440063914
rs1440063914
2 0.925 0.080 2 8779781 missense variant T/C snv 0.010 1.000 1 2001 2001