TUBB1, tubulin beta 1 class VI, 81027

N. diseases: 22; N. variants: 14
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: rs121918555
rs121918555 		0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05
CUI: C2751259
Disease: Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 		Hemic and Lymphatic Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121918555
rs121918555 		0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 2 2009 2019
dbSNP: rs11471957
rs11471957 		20 59023277 intron variant -/AA ins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11471957
rs11471957 		20 59023277 intron variant -/AA ins
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs139473150
rs139473150 		20 59024287 missense variant C/T snv 6.0E-05 1.6E-04
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs141152635
rs141152635 		20 59022396 intron variant T/G snv 3.5E-03
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs151349
rs151349 		20 59014711 upstream gene variant T/C snv 0.43
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs186658310
rs186658310 		20 59021437 intron variant C/A snv 4.5E-03
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs41303899
rs41303899 		20 59023753 missense variant G/A snv 8.7E-04 9.0E-04
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs41303899
rs41303899 		20 59023753 missense variant G/A snv 8.7E-04 9.0E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs41303899
rs41303899 		20 59023753 missense variant G/A snv 8.7E-04 9.0E-04
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs463312
rs463312 		1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs62205397
rs62205397 		20 59021956 intron variant C/T snv 0.15
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs62205397
rs62205397 		20 59021956 intron variant C/T snv 0.15
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs560702757
rs560702757 		1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs759117911
rs759117911 		1.000 0.120 20 59023906 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs773248042
rs773248042 		1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1234442507
rs1234442507 		1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2005 2007
dbSNP: rs463312
rs463312 		1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2005 2007
dbSNP: rs1234442507
rs1234442507 		1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1234442507
rs1234442507 		1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs371852125
rs371852125 		1.000 0.040 20 59023863 missense variant G/A snv 3.6E-05 2.1E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs463312
rs463312 		1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs463312
rs463312 		1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007