TMEM240, transmembrane protein 240, 339453

N. diseases: 40; N. variants: 8
Disease: SPINOCEREBELLAR ATAXIA 21 ×
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: rs606231451
rs606231451 		0.925 0.120 1 1535372 missense variant G/A snv
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 3 2014 2018
dbSNP: rs606231453
rs606231453 		1.000 0.080 1 1535616 missense variant G/A snv 1.3E-05 4.9E-05
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2017
dbSNP: rs606231454
rs606231454 		1.000 0.080 1 1535723 missense variant G/A snv 3.8E-05 4.2E-05
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2017
dbSNP: rs606231455
rs606231455 		1.000 0.080 1 1535370 missense variant G/A snv 2.1E-05
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2010 2017
dbSNP: rs546291208
rs546291208 		1.000 0.080 1 1535436 missense variant C/G;T snv 2.0E-05 2.1E-05
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs1045410944
rs1045410944 		1.000 0.080 1 1535619 missense variant C/G;T snv 6.6E-06; 3.9E-05
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs606231452
rs606231452 		1.000 0.080 1 1535392 stop gained G/A;C snv
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0