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rs6994992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 1
(T;T) 1 increased creativity?


Make rs6994992(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position31638065
GeneNRG1
is asnp
is mentioned by
dbSNPrs6994992
dbSNP (classic)rs6994992
ClinGenrs6994992
ebirs6994992
HLIrs6994992
Exacrs6994992
Gnomadrs6994992
Varsomers6994992
LitVarrs6994992
Maprs6994992
PheGenIrs6994992
Biobankrs6994992
1000 genomesrs6994992
hgdprs6994992
ensemblrs6994992
geneviewrs6994992
scholarrs6994992
googlers6994992
pharmgkbrs6994992
gwascentralrs6994992
openSNPrs6994992
23andMers6994992
SNPshotrs6994992
SNPdbers6994992
MSV3drs6994992
GWAS Ctlgrs6994992
GMAF0.4412
Max Magnitude1

also known as SNP8NRG243177

Initial reports of a link to schizophrenia remain inconclusive.

paper implicated in schizophrenia

[PMID 17925794] effects white matter density and integrity

[PMID 17565985] schizophrenia risk-associated

[PMID 18286587OA-icon.png] The neuregulin 1 promoter polymorphism rs6994992 is not associated with neurocognition or chronic schizophrenia in a study of 738 patients

[PMID 19058791] T allele (in a per allele fashion) significantly associated with lateral ventricle volume in 95 first-episode schizophrenics

[PMID 19339916] points out that their result is that (T) was weakly associated with schizophrenia, however this is the opposite of the original association study where the C allele.

OMIM142445
DescNEUREGULIN 1; NRG1
Variant
Relatedalso

[PMID 19913623] Additive effect of NRG1 and DISC1 genes on lateral ventricle enlargement in first episode schizophrenia


[PMID 21745728OA-icon.png] Lack of association to a NRG1 missense polymorphism in schizophrenia or bipolar disorder in a Costa Rican population


[PMID 17598910OA-icon.png] Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia.


[PMID 17884806] Alpha7 nicotinic acetylcholine receptor mRNA expression and binding in postmortem human brain are associated with genetic variation in neuregulin 1.


[PMID 18543275] A polymorphism of the neuregulin 1 gene (SNP8NRG243177/rs6994992) affects reactivity to expressed emotion in schizophrenia.


[PMID 19448847OA-icon.png] Neuregulin 1 genetic variation and anterior cingulum integrity in patients with schizophrenia and healthy controls.


[PMID 19521112OA-icon.png] Analysis of a promoter polymorphism in the SMDF neuregulin 1 isoform in Schizophrenia.


[PMID 19594860] Genes for psychosis and creativity: a promoter polymorphism of the neuregulin 1 gene is related to creativity in people with high intellectual achievement.


[PMID 21035784] The influence of schizophrenia-related neuregulin-1 polymorphisms on sensorimotor gating in healthy males.


[PMID 23360725OA-icon.png] Association study of neuregulin-1 gene polymorphisms in a North Indian schizophrenia sample


[PMID 24865593OA-icon.png] Schizophrenia-risk variant rs6994992 in the neuregulin-1 gene on brain developmental trajectories in typically developing children


[PMID 24123921] Effects of neuregulin-1 genetic variation and depression symptom severity on longitudinal patterns of psychotic symptoms in primary care attendees


[PMID 25802071] Two functional promoter polymorphisms of neuregulin 1 gene are associated with progressive forms of multiple sclerosis


[PMID 26071373] Contribution of NRG1 Gene Polymorphisms in Temporal Lobe Epilepsy


[PMID 26650688] Variation at NRG1 genotype related to modulation of small-world properties of the functional cortical network.