rs2293275

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(G;G)

Make rs2293275(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

48694236

Gene	LHCGR, STON1-GTF2A1L

is a	snp
is	mentioned by
dbSNP	rs2293275
dbSNP (classic)	rs2293275
ClinGen	rs2293275
ebi	rs2293275
HLI	rs2293275
Exac	rs2293275
Gnomad	rs2293275
Varsome	rs2293275
LitVar	rs2293275
Map	rs2293275
PheGenI	rs2293275
Biobank	rs2293275
1000 genomes	rs2293275
hgdp	rs2293275
ensembl	rs2293275
geneview	rs2293275
scholar	rs2293275
google	rs2293275
pharmgkb	rs2293275
gwascentral	rs2293275
openSNP	rs2293275
23andMe	rs2293275
SNPshot	rs2293275
SNPdbe	rs2293275
MSV3d	rs2293275
GWAS Ctlg	rs2293275

GMAF

0.3655

Max Magnitude

0

?

(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 18439297 ] 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.

[PMID 25565299 ] Association of Luteinizing Hormone Chorionic Gonadotropin Receptor Gene Polymorphism (rs2293275) with Polycystic Ovarian Syndrome

ClinVar
Risk	Rs2293275(G;G)
Alt	Rs2293275(G;G)
Reference	Rs2293275(A;A)
Significance	Non-pathogenic
Disease	not specified Hypergonadotropic hypogonadism Gonadotropin-independent familial sexual precocity Leydig cell agenesis
Variation	info
Gene	STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN	not specified Hypergonadotropic hypogonadism Gonadotropin-independent familial sexual precocity Leydig cell agenesis
Reversed	1
HGVS	NC_000002.11:g.48921375T>C
CLNSRC
CLNACC	RCV000247916.1, RCV000290924.1, RCV000345770.1, RCV000399694.1,

[PMID 31115963] The implication of single-nucleotide polymorphisms in ovarian hyperstimulation syndrome.