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rs3924999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;A)
Make rs3924999(C;C)
Make rs3924999(C;T)
Make rs3924999(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position32595840
GeneNRG1
is asnp
is mentioned by
dbSNPrs3924999
ebirs3924999
HLIrs3924999
Exacrs3924999
Varsomers3924999
Maprs3924999
PheGenIrs3924999
hapmaprs3924999
1000 genomesrs3924999
hgdprs3924999
ensemblrs3924999
gopubmedrs3924999
geneviewrs3924999
scholarrs3924999
googlers3924999
pharmgkbrs3924999
gwascentralrs3924999
openSNPrs3924999
23andMers3924999
23andMe allrs3924999
SNP Nexus

SNPshotrs3924999
SNPdbers3924999
MSV3drs3924999
GWAS Ctlgrs3924999
GMAF0.4114
Max Magnitude
? (C;C) (C;T) (T;T) 28
a significant association between rs3924999 and Alzheimer's disease with psychosis


Venter snp
Source plos
Gene NRG1
allele A
frequency 0.358
sift TOLERATED
HuRef 1103652290191
Disease Association A rare chromosomal aberration involving NRG1 produces gamma-heregulin. Translocation t(8;11) with ODZ4. The translocation fuses the 5'end of ODZ4 to NRG1 (isoform 8). The product of this translocation was first thought to be an alternatively spliced isoform. Gamma-heregulin is a soluble activating ligand for the ERBB2-ERBB3 receptor complex and acts as an autocrine growth factor in a specific breast cancer cell line (MDA-MB-175). Not detected in breast carcinoma samples, including ductal, lobular, medullary, and mucinous histological types, neither in other breast cancer cell lines.



OMIM104300
DescALZHEIMER DISEASE; AD
Variant
Relatedalso
OMIM142445
DescNEUREGULIN 1; NRG1
Variant
Relatedalso


[PMID 19394386] Genetic association analysis of NRG1 with methamphetamine-induced psychosis in a Japanese population


[PMID 20497232] Association of Neuregulin 1 rs3924999 Genotype with Antisaccades and Smooth Pursuit Eye Movements

[PMID 20182055] No association between neuregulin 1 and psychotic symptoms in Alzheimer's disease patients


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


[PMID 22467496] Association study of neuregulin 1 gene polymorphisms with auditory p300 in schizophrenia.


[PMID 12874607] Association study of neuregulin 1 gene with schizophrenia.


[PMID 16219117] Neuregulin 1 gene and variations in perceptual aberration of schizotypal personality in adolescents.


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


[PMID 17631867OA-icon.png] Evidence of missense mutations on the neuregulin 1 gene affecting function of prepulse inhibition.


[PMID 18478032OA-icon.png] Neuregulin 1 in neural development, synaptic plasticity and schizophrenia.


[PMID 19199244] [Association analysis of neuregulin 1 gene polymorphism with schizophrenia in Chinese Han population].


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


[PMID 19545856OA-icon.png] Sensorimotor gating depends on polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase, but not on neuregulin-1 Arg38Gln genotype: a replication study.


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


GET Evidence
NRG1-R38Q
aa_change Arg38Gln
aa_change_short R38Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.308329
summary



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


[PMID 23489597] Neuregulin-1 (NRG-1) and its susceptibility to schizophrenia: a case-control study and meta-analysis


[PMID 25106628] Drugs Targeting SNPrs35753505 of the NRG1 Gene may Prevent the Association of Schizophrenia in a Pakistani Population