rs6166

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;G)		normal risk
(C;T)	0
(G;G)	1	Females slightly more likely to be sterile
(T;T)	0

Reference

GRCh38 38.1/141

Chromosome

2

Position

48962782

Gene

FSHR

is a	snp
is	mentioned by
dbSNP	rs6166
dbSNP (classic)	rs6166
ClinGen	rs6166
ebi	rs6166
HLI	rs6166
Exac	rs6166
Gnomad	rs6166
Varsome	rs6166
LitVar	rs6166
Map	rs6166
PheGenI	rs6166
Biobank	rs6166
1000 genomes	rs6166
hgdp	rs6166
ensembl	rs6166
geneview	rs6166
scholar	rs6166
google	rs6166
pharmgkb	rs6166
gwascentral	rs6166
openSNP	rs6166
23andMe	rs6166
SNPshot	rs6166
SNPdbe	rs6166
MSV3d	rs6166
GWAS Ctlg	rs6166

GMAF

0.4017

Max Magnitude

1

?	(A;A) (A;G) (G;G)	28

rs6166, also known as Asn680Ser or c.2039G>A, is a SNP in the follicle stimulating hormone receptor FSHR gene. rs6166(G) is the risk allele encoding the Ser amino acid, at least based on one study in which less fecund women were found to be disproportionately Ser/Ser homozygotes (i.e. rs6166(G;G) homozygotes; p=0.0035).[PMID 18159088]

OMIM	136435
Desc	OVARIAN RESPONSE TO FSH STIMULATION
Variant	0006
Related	also

[PMID 20335500] FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women

[PMID 20448000] Commentary: FSH and Bone 2010: Evolving Evidence

[PMID 21546300] Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: A meta-analysis

[PMID 22791757] Combined Effects of the Variants FSHB -211G/T and FSHR 2039A>G on Male Reproductive Parameters

ClinVar
Risk	Rs6166(A;A)
Alt	Rs6166(A;A)
Reference	Rs6166(G;G)
Significance	Other
Disease	Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome not specified Ovarian Dysgenesis
Variation	info
Gene	FSHR
CLNDBN	Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome not specified Ovarian Dysgenesis
Reversed	1
HGVS	NC_000002.11:g.49189921C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017634.4, RCV000017635.6, RCV000252781.1, RCV000316299.1,

[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 19147210] The haplotype of two FSHR polymorphisms in ovarian cancer--a potential role of ethnology in risk modification.

[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.

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

[PMID 20399696] Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome.

[PMID 21269619] Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.

[PMID 22401810] Assessment of FSHR variants and antimullerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation.

[PMID 23413141] Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume

[PMID 22414334] Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis.

[PMID 23394253] Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures.

[PMID 25052309] The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

[PMID 25721191] Follicle-stimulating hormone receptor polymorphism affects the outcome of ovulation induction in normogonadotropic (World Health Organization class 2) anovulatory subfertility

[PMID 25241129] Genotyping common FSHR polymorphisms based on competitive amplification of differentially melting amplicons (CADMA)

[PMID 28547204] FSH receptor gene p. Thr307Ala and p. Asn680Ser polymorphisms are associated with the risk of polycystic ovary syndrome.

[PMID 28764642] The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.

[PMID 30843750] Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town.