TMEM216, transmembrane protein 216, 51259

N. diseases: 154; N. variants: 16
Disease: Multiple congenital anomalies ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2010 2015