Source: CLINVAR

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: rs121918070
rs121918070
TTR
1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 19 1986 2015
dbSNP: rs121918076
rs121918076
TTR
0.882 0.120 18 31595129 missense variant T/A;C;G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 12 1990 2013
dbSNP: rs121918089
rs121918089
TTR
1.000 0.120 18 31598610 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 10 1986 2014
dbSNP: rs1555631387
rs1555631387
TTR
1.000 0.120 18 31595125 missense variant C/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 8 1992 2017
dbSNP: rs1567945632
rs1567945632
TTR
1.000 0.120 18 31592938 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 8 1996 2015
dbSNP: rs121918096
rs121918096
TTR
1.000 0.120 18 31598652 inframe deletion GTC/- delins
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 6 1997 2016
dbSNP: rs121918083
rs121918083
TTR
1.000 0.120 18 31592914 missense variant T/C snv 7.0E-06
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 5 1986 2014
dbSNP: rs1555631402
rs1555631402
TTR
1.000 0.120 18 31595163 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 5 2012 2018
dbSNP: rs876658108
rs876658108
TTR
1.000 0.120 18 31598649 missense variant G/T snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 5 1986 2017
dbSNP: rs11541790
rs11541790
TTR
1.000 0.120 18 31592956 missense variant C/T snv 7.0E-06
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 3 1995 2014
dbSNP: rs121918072
rs121918072
TTR
1.000 0.120 18 31595230 missense variant T/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 3 1986 2014
dbSNP: rs104894664
rs104894664
TTR
0.882 0.120 18 31592959 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs104894665
rs104894665
TTR
0.851 0.120 18 31593017 missense variant T/C snv
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs104894665
rs104894665
TTR
0.851 0.120 18 31593017 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
dbSNP: rs121918070
rs121918070
TTR
1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs121918074
rs121918074
TTR
0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs121918077
rs121918077
TTR
0.882 0.120 18 31592992 missense variant G/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
dbSNP: rs121918084
rs121918084
TTR
0.925 0.120 18 31595191 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
dbSNP: rs121918086
rs121918086
TTR
1.000 0.120 18 31595160 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
dbSNP: rs121918087
rs121918087
TTR
0.882 0.120 18 31598581 missense variant C/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
dbSNP: rs121918088
rs121918088
TTR
0.851 0.120 18 31598631 missense variant T/C snv
CUI: C3468338
Disease: CARPAL TUNNEL SYNDROME, FAMILIAL
CARPAL TUNNEL SYNDROME, FAMILIAL 		0.700 0
dbSNP: rs267607160
rs267607160
TTR
1.000 0.120 18 31595189 missense variant A/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
dbSNP: rs386134269
rs386134269
TTR
0.882 0.120 18 31595127 missense variant A/C;G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 2013 2014
dbSNP: rs121918085
rs121918085
TTR
0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 9 1986 2017
dbSNP: rs121918100
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 5 1986 2015