RAB23, RAB23, member RAS oncogene family, 51715

N. diseases: 144; N. variants: 5
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: rs121908171
rs121908171 		0.925 0.080 6 57194817 stop gained A/T snv 2.8E-04 3.6E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1985 2014