Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777446
rs587777446
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777447
rs587777447
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777448
rs587777448
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777449
rs587777449
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs587777449
rs587777449
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777575
rs587777575
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777576
rs587777576
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs672601336
rs672601336
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1320095792
rs1320095792
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553696482
rs1553696482
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease:
SINGLETON-MERTEN SYNDROME 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553696482
rs1553696482
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1558875029
rs1558875029
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C4225427
Disease:
SINGLETON-MERTEN SYNDROME 1 		GC 0.700 GeneticVariation CLINVAR
dbSNP: rs1558875029
rs1558875029
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		GC 0.700 GeneticVariation CLINVAR
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0751740
Disease:
Lenticulostriate Vasculopathy 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0151526
Disease:
Premature Birth 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C1386048
Disease:
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0019214
Disease:
Hepatosplenomegaly 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C3888244
Disease:
AICARDI-GOUTIERES SYNDROME 7 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0031256
Disease:
Petechiae 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C2973725
Disease:
Pulmonary arterial hypertension 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
dbSNP: rs1559810905
rs1559810905
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C0002871
Disease:
Anemia 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020