rs4523957, SMG6;SRR

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASCAT Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASDB Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 23974872 2013
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.800 GeneticVariation GWASCAT Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 23974872 2013
Child Development Disorders, Pervasive
0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
Post-Traumatic Stress Disorder
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
0.010 GeneticVariation BEFREE We also demonstrate that the SRR single nucleotide polymorphism, rs4523957, is associated with posttraumatic stress disorder in humans, consistent with the facilitatory effect of D-serine on fear extinction. 29025687 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE Intriguingly, the activity of the SMG6 promoter with the mutant allele at rs4523957 decreased by 22% in the dual-luciferase assay, and up-regulated expression of SMG6 was observed in an epilepsy rat model. 29363864 2018
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.010 GeneticVariation BEFREE In particular, variation at rs4523957 likely inhibits SMG6 transcription and plays a key role against susceptibility to and severity of TLE. 29363864 2018
Mental Depression
CUI: C0011570
Disease: Mental Depression
0.010 GeneticVariation BEFREE Logistic regression analysis revealed a marginally significant interaction (genetic variant × SLE) at rs4523957 (P uncorrected = 0.0034) with depression and a significant association of single nucleotide polymorphism identified from evidence of BD GWAS (rs7296288, downstream of DHH at 12q13.1) with depression as the main effect (P uncorrected = 9.4 × 10(-4), P corrected = 0.0424). 25517604 2014
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.010 GeneticVariation BEFREE Logistic regression analysis revealed a marginally significant interaction (genetic variant × SLE) at rs4523957 (P uncorrected = 0.0034) with depression and a significant association of single nucleotide polymorphism identified from evidence of BD GWAS (rs7296288, downstream of DHH at 12q13.1) with depression as the main effect (P uncorrected = 9.4 × 10(-4), P corrected = 0.0424). 25517604 2014
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
0.010 GeneticVariation BEFREE Logistic regression analysis revealed a marginally significant interaction (genetic variant × SLE) at rs4523957 (P uncorrected = 0.0034) with depression and a significant association of single nucleotide polymorphism identified from evidence of BD GWAS (rs7296288, downstream of DHH at 12q13.1) with depression as the main effect (P uncorrected = 9.4 × 10(-4), P corrected = 0.0424). 25517604 2014
Depressed mood
CUI: C0344315
Disease: Depressed mood
0.010 GeneticVariation BEFREE Logistic regression analysis revealed a marginally significant interaction (genetic variant × SLE) at rs4523957 (P uncorrected = 0.0034) with depression and a significant association of single nucleotide polymorphism identified from evidence of BD GWAS (rs7296288, downstream of DHH at 12q13.1) with depression as the main effect (P uncorrected = 9.4 × 10(-4), P corrected = 0.0424). 25517604 2014