Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201893545
rs201893545
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
0.800 GeneticVariation UNIPROT Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. 28644393 2017
dbSNP: rs201893545
rs201893545
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
0.800 GeneticVariation UNIPROT Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 25085631 2014
dbSNP: rs201893545
rs201893545
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
0.800 GeneticVariation UNIPROT Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862 2010
dbSNP: rs201893545
rs201893545
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
G 0.800 CausalMutation CLINVAR
dbSNP: rs713993049
rs713993049
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
0.800 GeneticVariation UNIPROT
dbSNP: rs713993049
rs713993049
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs267606875
rs267606875
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0730292
Disease:
Macular dystrophy
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs503734
rs503734
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
A 0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs503734
rs503734
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0010346
Disease:
Crohn Disease
0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs758291149
rs758291149
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4316870
Disease:
Abnormality of the eye
T 0.700 CausalMutation CLINVAR Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862 2010
dbSNP: rs758291149
rs758291149
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0854723
Disease:
Retinal Dystrophies
T 0.700 CausalMutation CLINVAR Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862 2010
dbSNP: rs1553681348
rs1553681348
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease:
Retinitis Pigmentosa
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553681433
rs1553681433
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C3150819
Disease:
RETINITIS PIGMENTOSA 56
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553687058
rs1553687058
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease:
Retinitis Pigmentosa
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553687118
rs1553687118
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C3150819
Disease:
RETINITIS PIGMENTOSA 56
T 0.700 CausalMutation CLINVAR
dbSNP: rs1559642470
rs1559642470
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
T 0.700 GeneticVariation CLINVAR
dbSNP: rs199867882
rs199867882
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease:
Retinitis Pigmentosa
A 0.700 CausalMutation CLINVAR
dbSNP: rs201893545
rs201893545
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease:
Retinitis Pigmentosa
G 0.700 GeneticVariation CLINVAR
dbSNP: rs267606874
rs267606874
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C3150819
Disease:
RETINITIS PIGMENTOSA 56
C 0.700 CausalMutation CLINVAR
dbSNP: rs267606874
rs267606874
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease:
Retinitis Pigmentosa
C 0.700 CausalMutation CLINVAR
dbSNP: rs267606875
rs267606875
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C3150819
Disease:
RETINITIS PIGMENTOSA 56
A 0.700 CausalMutation CLINVAR
dbSNP: rs267606876
rs267606876
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C3150819
Disease:
RETINITIS PIGMENTOSA 56
A 0.700 CausalMutation CLINVAR
dbSNP: rs754995805
rs754995805
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0035334
Disease:
Retinitis Pigmentosa
CTTCATCACCTAAAA 0.700 GeneticVariation CLINVAR
dbSNP: rs763295314
rs763295314
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C4015343
Disease:
MACULAR DYSTROPHY, VITELLIFORM, 5
C 0.700 CausalMutation CLINVAR
dbSNP: rs768660614
rs768660614
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
CUI: C0854723
Disease:
Retinal Dystrophies
GT 0.700 GeneticVariation CLINVAR