SET, SET nuclear proto-oncogene, 6418

N. diseases: 183; N. variants: 5
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: rs1554776500
rs1554776500 		1.000 9 128691970 missense variant T/G snv
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.800 1.000 2 2014 2018
dbSNP: rs1554776342
rs1554776342 		1.000 9 128691222 frameshift variant ACAG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2001 2016
dbSNP: rs1554776342
rs1554776342 		1.000 9 128691222 frameshift variant ACAG/- delins
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.700 0
dbSNP: rs1554776933
rs1554776933 		1.000 9 128693794 frameshift variant -/TA delins
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.700 0
dbSNP: rs1554776938
rs1554776938 		1.000 9 128693805 stop gained CTT/- del
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.700 0
dbSNP: rs1564360978
rs1564360978 		1.000 9 128692700 missense variant C/T snv
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.700 0