TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
Disease: Encephaloclastic Proliferative Vasculopathy ×
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: rs267606822
rs267606822 		1.000 0.080 14 75639419 missense variant C/G;T snv
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606824
rs267606824 		1.000 0.080 14 75633653 missense variant C/T snv
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs267606825
rs267606825 		0.925 0.160 14 75641008 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2010
dbSNP: rs780523767
rs780523767 		1.000 0.080 14 75641062 splice donor variant T/C snv 4.0E-06; 4.0E-06
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0