PRSS12, serine protease 12, 8492

N. diseases: 50; N. variants: 1
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: rs876657372
rs876657372 		1.000 0.160 4 118313332 frameshift variant ACGT/- del
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0