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rs6166

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome2
Position48962782
GeneFSHR
is asnp
is mentioned by
dbSNPrs6166
dbSNP (classic)rs6166
ClinGenrs6166
ebirs6166
HLIrs6166
Exacrs6166
Gnomadrs6166
Varsomers6166
LitVarrs6166
Maprs6166
PheGenIrs6166
Biobankrs6166
1000 genomesrs6166
hgdprs6166
ensemblrs6166
geneviewrs6166
scholarrs6166
googlers6166
pharmgkbrs6166
gwascentralrs6166
openSNPrs6166
23andMers6166
23andMe allrs6166
SNPshotrs6166
SNPdbers6166
MSV3drs6166
GWAS Ctlgrs6166
GMAF0.4017
Max Magnitude1
? (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]

OMIM136435
DescOVARIAN RESPONSE TO FSH STIMULATION
Variant0006
Relatedalso


[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 18603647OA-icon.png] 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 19387820OA-icon.png] 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 23413141OA-icon.png] 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 25052309OA-icon.png] 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 25241129OA-icon.png] Genotyping common FSHR polymorphisms based on competitive amplification of differentially melting amplicons (CADMA)


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


[PMID 28764642OA-icon.png] 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.