Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554776500
rs1554776500
SET
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1554776342
rs1554776342
SET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression. 27775603

2016
dbSNP: rs1554776342
rs1554776342
SET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1554776342
rs1554776342
SET
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. 11231286

2001
dbSNP: rs1554776342
rs1554776342
SET
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554776933
rs1554776933
SET
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		TTA 0.700 CausalMutation CLINVAR

dbSNP: rs1554776938
rs1554776938
SET
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1564360978
rs1564360978
SET
CUI: C4748195
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		T 0.700 CausalMutation CLINVAR