TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: Familial aplasia of the vermis ×
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: rs201108965
rs201108965 		0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 5 2010 2016
dbSNP: rs11230683
rs11230683 		0.882 0.320 11 61397797 stop gained C/A;G;T snv 2.8E-03; 4.0E-06; 8.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2010 2017
dbSNP: rs1554972547
rs1554972547 		0.882 0.320 11 61393883 splice acceptor variant G/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2010 2010