Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554776342
rs1554776342
SET
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
T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014

dbSNP: rs1554776342
rs1554776342
SET
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