TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1791227
rs1791227 		18 31597868 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1294297409
rs1294297409 		1.000 0.040 18 31592996 missense variant C/A snv 8.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs138065384
rs138065384 		0.925 0.040 18 31593016 missense variant T/C snv 4.4E-05 1.9E-04
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs138065384
rs138065384 		0.925 0.040 18 31593016 missense variant T/C snv 4.4E-05 1.9E-04
CUI: C0271681
Disease: Sensory polyneuropathy
Sensory polyneuropathy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs138065384
rs138065384 		0.925 0.040 18 31593016 missense variant T/C snv 4.4E-05 1.9E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs62093482
rs62093482 		1.000 0.040 18 31598936 3 prime UTR variant C/T snv 1.8E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267607159
rs267607159 		0.925 0.080 18 31598616 missense variant G/A;T snv 5.6E-05 4.9E-05
CUI: C1839141
Disease: Thyroxine-Binding Globulin Deficiency
Thyroxine-Binding Globulin Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2014 2014
dbSNP: rs267607159
rs267607159 		0.925 0.080 18 31598616 missense variant G/A;T snv 5.6E-05 4.9E-05
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 1.000 1 1990 1990
dbSNP: rs121918070
rs121918070 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 39 1986 2015
dbSNP: rs121918089
rs121918089 		1.000 0.120 18 31598610 missense variant A/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 29 1986 2014
dbSNP: rs121918083
rs121918083 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 26 1986 2014
dbSNP: rs876658108
rs876658108 		1.000 0.120 18 31598649 missense variant G/T snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 26 1986 2017
dbSNP: rs121918072
rs121918072 		1.000 0.120 18 31595230 missense variant T/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 25 1986 2014
dbSNP: rs104894665
rs104894665 		0.851 0.120 18 31593017 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1986 2014
dbSNP: rs121918077
rs121918077 		0.882 0.120 18 31592992 missense variant G/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1986 2014
dbSNP: rs121918084
rs121918084 		0.925 0.120 18 31595191 missense variant T/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1986 2014
dbSNP: rs121918086
rs121918086 		1.000 0.120 18 31595160 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1986 2014
dbSNP: rs121918087
rs121918087 		0.882 0.120 18 31598581 missense variant C/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1986 2014
dbSNP: rs267607160
rs267607160 		1.000 0.120 18 31595189 missense variant A/C snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1986 2014
dbSNP: rs121918078
rs121918078 		1.000 0.120 18 31593019 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1986 2007
dbSNP: rs144965179
rs144965179 		1.000 0.120 18 31598662 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1986 2007
dbSNP: rs1456101911
rs1456101911 		1.000 0.120 18 31598608 splice donor variant C/A;T snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1986 2007
dbSNP: rs121918076
rs121918076 		0.882 0.120 18 31595129 missense variant T/A;C;G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 12 1990 2013
dbSNP: rs1555631387
rs1555631387 		1.000 0.120 18 31595125 missense variant C/G snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 1992 2017
dbSNP: rs1567945632
rs1567945632 		1.000 0.120 18 31592938 missense variant G/A snv
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 1996 2015