RAB40AL, RAB40A like, 282808

N. diseases: 18; N. variants: 1
Disease: Martin-Probst Deafness-Mental Retardation Syndrome ×
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: rs145606134
rs145606134 		0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03
CUI: C1845285
Disease: Martin-Probst Deafness-Mental Retardation Syndrome
Martin-Probst Deafness-Mental Retardation Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0