Gene: IRF2BPL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555377234
rs1555377234
IRF2BPL
C 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
C 0.700 GeneticVariation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1555377234
rs1555377234
IRF2BPL
C 0.700 GeneticVariation CLINVAR A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2. 21444724

2011
dbSNP: rs1555377234
rs1555377234
IRF2BPL
C 0.700 GeneticVariation CLINVAR Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. 17627301

2007
dbSNP: rs1555377234
rs1555377234
IRF2BPL
C 0.700 GeneticVariation CLINVAR Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. 11095982

2000
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
C 0.700 GeneticVariation CLINVAR