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: rs72922940
rs72922940
TTR
0.925 0.160 18 31590735 intron variant A/G snv 9.8E-02
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.010 1.000 1 2015 2015
dbSNP: rs1800458
rs1800458
TTR
0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.020 0.500 2 2015 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 26 1986 2014
dbSNP: rs121918094
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 22 1986 2014
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 29 1986 2014
dbSNP: rs121918093
rs121918093
TTR
0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 22 1986 2014
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 5 1995 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: 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 88 1984 2019
dbSNP: rs79977247
rs79977247
TTR
0.776 0.200 18 31592975 missense variant T/C;G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 23 1986 2014
dbSNP: rs121918068
rs121918068
TTR
0.882 0.200 18 31592983 missense variant T/A;C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 23 1986 2017
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 22 1986 2014
dbSNP: rs11541796
rs11541796
TTR
0.807 0.280 18 31593011 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 3 1994 2014
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 22 1986 2014
dbSNP: rs121918078
rs121918078
TTR
1.000 0.120 18 31593019 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 1.000 20 1986 2007
dbSNP: rs730881169
rs730881169
TTR
0.925 0.120 18 31593020 missense variant C/A;T snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs387906523
rs387906523
TTR
0.882 0.160 18 31593025 missense variant G/A;C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 22 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 26 1986 2016
dbSNP: rs121918081
rs121918081
TTR
0.925 0.200 18 31595124 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 23 1986 2017
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: 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 2 2013 2014
dbSNP: rs121918080
rs121918080
TTR
0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 23 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: 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