Rs2293275

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Orientationminus
Geno Mag Summary
(G;G)
Make rs2293275(A;A)
Make rs2293275(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48694236
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs2293275
PheGenIrs2293275
nextbiors2293275
hapmaprs2293275
1000 genomesrs2293275
hgdprs2293275
ensemblrs2293275
gopubmedrs2293275
geneviewrs2293275
scholarrs2293275
googlers2293275
pharmgkbrs2293275
gwascentralrs2293275
openSNPrs2293275
23andMers2293275
23andMe allrs2293275
SNP Nexus

SNPshotrs2293275
SNPdbers2293275
MSV3drs2293275
GMAF0.3655
Max Magnitude
? (A;A) (A;G) (G;G) 28
SNP in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, correlated to spermatogenetic damage and thus a risk factor for male infertility.[PMID 18300940]

[PMID 17709176] Polymorphic variations in exon 10 of the luteinizing hormone receptor: functional consequences and associations with breast cancer.

[PMID 18439297OA-icon.png] A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele.

[PMID 19403562] Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.


GET Evidence
LHCGR-N312S
aa_change Asn312Ser
aa_change_short N312S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.490229
summary