Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1990760
rs1990760
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.900 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
dbSNP: rs1990760
rs1990760
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
dbSNP: rs1990760
rs1990760
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.900 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs1990760
rs1990760
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.900 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
dbSNP: rs1990760
rs1990760
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260 2007
dbSNP: rs1990760
rs1990760
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		A 0.900 GeneticVariation GWASDB Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260 2007
dbSNP: rs376048533
rs376048533
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease:
SINGLETON-MERTEN SYNDROME 1 		T 0.800 CausalMutation CLINVAR Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. 28319323 2017
dbSNP: rs376048533
rs376048533
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease:
SINGLETON-MERTEN SYNDROME 1 		T 0.800 CausalMutation CLINVAR A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204 2015
dbSNP: rs587777445
rs587777445
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777445
rs587777445
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777446
rs587777446
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777446
rs587777446
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777447
rs587777447
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777447
rs587777447
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777448
rs587777448
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777448
rs587777448
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777449
rs587777449
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777449
rs587777449
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777575
rs587777575
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs587777575
rs587777575
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777576
rs587777576
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs587777576
rs587777576
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs672601336
rs672601336
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
dbSNP: rs672601336
rs672601336
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
dbSNP: rs376048533
rs376048533
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease:
SINGLETON-MERTEN SYNDROME 1 		0.800 GeneticVariation UNIPROT