{{Rsnum
|rsid=6166
|Gene=FSHR
|Chromosome=2
|position=48962782
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4017
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=FSHR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 35.4 | 48.7 | 15.9
| HCB | 51.1 | 41.6 | 7.3
| JPT | 41.1 | 48.2 | 10.7
| YRI | 24.5 | 52.4 | 23.1
| ASW | 35.7 | 46.4 | 17.9
| CHB | 51.1 | 41.6 | 7.3
| CHD | 47.7 | 44.0 | 8.3
| GIH | 23.8 | 50.5 | 25.7
| LWK | 43.0 | 43.9 | 13.1
| MEX | 39.7 | 55.2 | 5.2
| MKK | 40.0 | 45.2 | 14.8
| TSI | 30.7 | 43.6 | 25.7
| HapMapRevision=28
}}
[[rs6166]], also known as Asn680Ser, 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
|desc=OVARIAN RESPONSE TO FSH STIMULATION
|id=136435
|rsnum=6166
|variant=0006
}}

{{ neighbor
| rsid = 28928871
| distance = 340
}}

{{Venter SNP
|rsid=6166
|allele=T
|frequency=0.333
|uid=1103658093005
|type=heterozygous_SNP
|hugo=FSHR
|ensembl gene=ENSG00000170820
|ensembl transcript=ENST00000304421
|sift=TOLERATED
|disease=Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS) (MIM:608115). OHSS is a disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis.
}}

{{PMID Auto
|PMID=20335500
|Title=FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women
}}

{{PMID Auto
|PMID=20448000
|Title=Commentary: FSH and Bone 2010: Evolving Evidence
}}

{{PMID Auto
|PMID=21546300
|Title=Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: A meta-analysis
}}

{{PMID Auto
|PMID=22791757
|Title=Combined Effects of the Variants FSHB -211G/T and FSHR 2039A&gt;G on Male Reproductive Parameters
}}

{{ClinVar
|rsid=6166
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=49189921
|CHROM=2
|GMAF=0.4016
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05016800000015051f110100
|GENEINFO=FSHR:2492
|GENE_NAME=FSHR
|GENE_ID=2492
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.49189921C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.4017; 0.5983
|CLNACC=RCV000017634.1; RCV000017635.1
|CLNDBN=Ovarian response to FSH stimulation; Ovarian hyperstimulation syndrome
|CLNDSDB=MedGen; MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C1848715; C0085083:608115:129635004
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=136435.0006
|COMMON=1
|Disease=Ovarian response to FSH stimulation; Ovarian hyperstimulation syndrome
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=19147210
|Title=The haplotype of two FSHR polymorphisms in ovarian cancer--a potential role of ethnology in risk modification.
}}

{{PMID Auto
|PMID=19387820
|Title=Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.
|OA=1
}}

{{PMID Auto
|PMID=19403562
|Title=Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.
}}

{{PMID Auto
|PMID=20399696
|Title=Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome.
}}

{{PMID Auto
|PMID=21269619
|Title=Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.
}}

{{PMID Auto
|PMID=22401810
|Title=Assessment of FSHR variants and antimullerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation.
}}

{{GET Evidence
|gene=FSHR
|aa_change=Ser654Asn
|aa_change_short=S654N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6166
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23413141
|Title=Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume
|OA=1
}}

{{PMID Auto
|PMID=22414334
|Title=Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis.
}}

{{PMID Auto
|PMID=23394253
|Title=Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures.
}}

{{PMID Auto
|PMID=25052309
|Title=The FSHB -211G&gt;T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}