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: 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: 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 0 1994 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 0 1986 2017
dbSNP: rs121918073
rs121918073
TTR
0.882 0.160 18 31598622 missense variant C/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.800 1.000 0 1986 2014
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: rs121918079
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		0.810 1.000 0 1986 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 0 1986 2014
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 0 1986 2017
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: 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 0 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 0 1986 2014
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: 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 0 1986 2014
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 0 1986 2014