MTSS2, MTSS I-BAR domain containing 2, 92154

N. diseases: 8; 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: rs531163149
rs531163149 		1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs531163149
rs531163149 		1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs531163149
rs531163149 		1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs531163149
rs531163149 		1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0