Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312741
rs869312741
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C4310793
Disease:
HEART AND BRAIN MALFORMATION SYNDROME
T 0.700 CausalMutation CLINVAR
dbSNP: rs869312742
rs869312742
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C4310793
Disease:
HEART AND BRAIN MALFORMATION SYNDROME
C 0.700 CausalMutation CLINVAR
dbSNP: rs346532
rs346532
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs61387190
rs61387190
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0200635
Disease:
Lymphocyte Count measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs869312741
rs869312741
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C4049796
Disease:
Abnormality of cardiovascular system morphology
T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312741
rs869312741
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0557874
Disease:
Global developmental delay
T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312741
rs869312741
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0424503
Disease:
Dysmorphic facies
T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312741
rs869312741
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C1855677
Disease:
Brainstem dysplasia
T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312742
rs869312742
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C4049796
Disease:
Abnormality of cardiovascular system morphology
C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312742
rs869312742
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C1855677
Disease:
Brainstem dysplasia
C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312742
rs869312742
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0424503
Disease:
Dysmorphic facies
C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs869312742
rs869312742
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0557874
Disease:
Global developmental delay
C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474 2016
dbSNP: rs61387190
rs61387190
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs61387190
rs61387190
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019