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: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.900 0.989 22 1984 2019
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: rs76992529
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.860 1.000 17 1986 2019
dbSNP: rs267607161
rs267607161
TTR
0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.870 1.000 14 1986 2020
dbSNP: rs121918069
rs121918069
TTR
0.925 0.200 18 31595152 missense variant T/A;G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.820 1.000 12 1986 2016
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: rs121918071
rs121918071
TTR
0.882 0.240 18 31595209 missense variant C/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 9 1986 2015
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: rs121918082
rs121918082
TTR
0.827 0.280 18 31595244 missense variant G/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.840 0.971 8 1986 2019
dbSNP: rs121918091
rs121918091
TTR
0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 8 1986 2016
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: rs121918098
rs121918098
TTR
0.807 0.200 18 31592939 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 7 1986 2014
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: 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
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: rs121918075
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.830 1.000 4 1986 2014
dbSNP: rs121918090
rs121918090
TTR
0.790 0.240 18 31593026 missense variant G/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 4 1986 2016
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: rs1555631390
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 1 2018 2018
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