TUBB1, tubulin beta 1 class VI, 81027

N. diseases: 22; N. variants: 14
Disease: Congenital Hypothyroidism ×
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: 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