THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
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: rs939348
rs939348
0.851 0.240 17 40075600 intron variant T/C;G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs939348
rs939348
0.851 0.240 17 40075600 intron variant T/C;G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs939348
rs939348
0.851 0.240 17 40075600 intron variant T/C;G snv
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs939348
rs939348
0.851 0.240 17 40075600 intron variant T/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs939348
rs939348
0.851 0.240 17 40075600 intron variant T/C;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs876657394
rs876657394
1.000 17 40089399 stop gained C/A snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2012 2016
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 1.000 4 2012 2015
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0003635
Disease: Apraxias
Apraxias
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 1.000 1 2017 2017
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0002871
Disease: Anemia
Anemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
Generalized Thyroid Hormone Resistance
Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs137853162
rs137853162
1.000 17 40077520 missense variant G/T snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs137853163
rs137853163
1.000 17 40089333 missense variant G/C snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs876657395
rs876657395
1.000 17 40089430 missense variant G/A snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs876657396
rs876657396
1.000 17 40089416 missense variant C/G snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs2230701
rs2230701
17 40083963 synonymous variant C/T snv 3.6E-02 4.0E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2018 2018
dbSNP: rs62065216
rs62065216
1.000 0.040 17 40062520 5 prime UTR variant G/A snv 0.37
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs746765465
rs746765465
1.000 17 40089359 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2012 2016
dbSNP: rs746765465
rs746765465
1.000 17 40089359 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2012 2016
dbSNP: rs746765465
rs746765465
1.000 17 40089359 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2012 2016
dbSNP: rs199530759
rs199530759
1.000 17 40076870 splice acceptor variant G/A snv 8.8E-05 7.7E-05
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs7502233
rs7502233
17 40062551 splice region variant G/A;C snv
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs7502233
rs7502233
17 40062551 splice region variant G/A;C snv
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019