TUBA8, tubulin alpha 8, 51807

N. diseases: 36; N. variants: 4
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: rs464901
rs464901 		1.000 0.080 22 18114735 non coding transcript exon variant T/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs465067
rs465067 		22 18119261 non coding transcript exon variant C/T snv 4.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs465067
rs465067 		22 18119261 non coding transcript exon variant C/T snv 4.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs465276
rs465276 		1.000 0.080 22 18117816 non coding transcript exon variant G/A snv 0.51
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs878853254
rs878853254 		1.000 0.080 22 18121455 frameshift variant GTTGCTTCCCTCTC/- delins
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0