Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		T 0.800 GeneticVariation CLINVAR De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 29534297 2018
dbSNP: rs1554108163
rs1554108163
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		T 0.800 GeneticVariation CLINVAR De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 29534297 2018
dbSNP: rs1554108163
rs1554108163
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.800 GeneticVariation UNIPROT De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 29534297 2018
dbSNP: rs1554108163
rs1554108163
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		C 0.800 GeneticVariation CLINVAR De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. 29534297 2018
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		0.800 GeneticVariation UNIPROT
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1554108163
rs1554108163
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1554108163
rs1554108163
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4693925
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 		T 0.800 CausalMutation CLINVAR
dbSNP: rs11738611
rs11738611
Entrez Id: 26999;408263
Gene Symbol: CYFIP2;FNDC9
CYFIP2;FNDC9
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11743919
rs11743919
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs56686215
rs56686215
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C1278049
Disease:
Serum gamma-glutamyl transferase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0086437
Disease:
Joint laxity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4023588
Disease:
Abnormality of the gastrointestinal tract 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0271441
Disease:
Chronic otitis media 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0036857
Disease:
Severe intellectual disability 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0013421
Disease:
Dystonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0036572
Disease:
Seizures 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0392525
Disease:
Nephrolithiasis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C4021790
Disease:
Abnormality of the skeletal system 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C1853743
Disease:
Muscular hypotonia of the trunk 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0037317
Disease:
Sleep disturbances 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692231
rs1131692231
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C1854882
Disease:
Absent speech 		T 0.700 CausalMutation CLINVAR
dbSNP: rs767007
rs767007
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		0.010 GeneticVariation BEFREE In logistic regression, combined possession of PDE2A (rs341058) and CYFIP2 (rs767007) significantly increased KD susceptibility (OR = 3.54; p = 4.14 x 10(-7)), while combinations of LOC100133214 (rs2517892) and IL2RA (rs3118470) significantly increased the risk of CAL in KD patients (OR = 5.35; p = 7.46 x 10(-5)). 26619243 2015