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: rs28933979
rs28933979 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.900 0.989 88 1984 2019
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.100 0.980 49 1986 2019
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 43 1998 2019
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.100 0.972 36 1992 2019
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		Nervous System Diseases 0.100 0.968 31 1984 2019
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.100 1.000 16 1999 2019
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.100 1.000 12 2008 2020
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 1.000 11 2000 2018
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 1.000 10 1985 2018
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		Nervous System Diseases 0.060 1.000 6 2004 2018
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0206247
Disease: Amyloid Neuropathies
Amyloid Neuropathies 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2004 2018
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.730 0.667 3 2009 2017
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp 		0.030 1.000 3 2006 2012
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.030 1.000 3 2006 2016
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0268384
Disease: Familial Amyloid Neuropathy, Portuguese Type
Familial Amyloid Neuropathy, Portuguese Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2000 2007
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2007 2010
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2006 2017
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0028643
Disease: Numbness
Numbness 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2010 2018
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2017 2018
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2009 2011
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2005 2015
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2003 2015
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		Nervous System Diseases 0.020 0.500 2 2001 2006
dbSNP: rs28933979
rs28933979 		0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.020 0.500 2 2012 2019