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: rs104894664
rs104894664 		0.882 0.120 18 31592959 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 0
dbSNP: rs104894665
rs104894665 		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: rs121918070
rs121918070 		1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs121918074
rs121918074 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918088
rs121918088 		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: rs121918091
rs121918091 		0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 0
dbSNP: rs121918091
rs121918091 		0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.700 0
dbSNP: rs121918097
rs121918097 		0.790 0.280 18 31595137 missense variant G/A snv
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs121918098
rs121918098 		0.807 0.200 18 31592939 missense variant A/G snv
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs121918100
rs121918100 		0.827 0.160 18 31595184 missense variant T/C snv
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 0
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs730881163
rs730881163 		0.882 0.160 18 31595155 missense variant C/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 0
dbSNP: rs730881167
rs730881167 		0.925 0.120 18 31598638 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 0.700 0
dbSNP: rs730881169
rs730881169 		0.925 0.120 18 31593020 missense 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 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		Endocrine System Diseases 0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C3151471
Disease: AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C4275067
Disease: Transthyretin related familial amyloid cardiomyopathy
Transthyretin related familial amyloid cardiomyopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0032285
Disease: Pneumonia
Pneumonia 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs79977247
rs79977247 		0.776 0.200 18 31592975 missense variant T/C;G snv
CUI: C3151470
Disease: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 		0.700 0
dbSNP: rs958191819
rs958191819 		0.851 0.240 18 31595212 missense variant A/T 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 0.700 0
dbSNP: rs76992529
rs76992529 		0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.710 1.000 1 2019 2019