Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 0.980 49 1986 2019
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 0.931 29 1998 2018
dbSNP: rs76992529
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 1.000 12 2001 2019
dbSNP: rs121909715
rs121909715
GSN
0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.060 1.000 6 1991 2018
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 0.600 5 2013 2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.050 0.600 5 2013 2017
dbSNP: rs3743930
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.040 1.000 4 2000 2005
dbSNP: rs104894664
rs104894664
TTR
0.882 0.120 18 31592959 missense variant G/A snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2003 2011
dbSNP: rs121918077
rs121918077
TTR
0.882 0.120 18 31592992 missense variant G/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 1999 2018
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 1999 2015
dbSNP: rs121918098
rs121918098
TTR
0.807 0.200 18 31592939 missense variant A/G snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2003 2019
dbSNP: rs28933981
rs28933981
TTR
0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2005 2009
dbSNP: rs28939068
rs28939068
CST3
0.790 0.200 20 23635330 missense variant A/T snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 1994 2018
dbSNP: rs28940579
rs28940579
MEFV
0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2004 2010
dbSNP: rs387906536
rs387906536
LYZ
0.851 0.200 12 69350215 missense variant T/A;C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2014 2019
dbSNP: rs759304648
rs759304648
GSN
0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2002 2007
dbSNP: rs920832709
rs920832709
GSN
0.851 0.200 9 121321384 synonymous variant G/T snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.030 1.000 3 2002 2007
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2012 2016
dbSNP: rs121918068
rs121918068
TTR
0.882 0.200 18 31592983 missense variant T/A;C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2007 2017
dbSNP: rs121918079
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2007 2009
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2003 2015
dbSNP: rs1800973
rs1800973
LYZ
0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2005 2006
dbSNP: rs267607161
rs267607161
TTR
0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2017 2018
dbSNP: rs28940578
rs28940578
MEFV
0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 1.000 2 2001 2017
dbSNP: rs79977247
rs79977247
TTR
0.776 0.200 18 31592975 missense variant T/C;G snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.020 0.500 2 2007 2014