{{Rsnum
|rsid=6165
|Gene=FSHR
|Chromosome=2
|position=48963902
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4858
|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 | 47.1 | 43.4 | 9.6
| JPT | 40.7 | 46.0 | 13.3
| YRI | 4.8 | 35.4 | 59.9
| ASW | 10.5 | 43.9 | 45.6
| CHB | 47.1 | 43.4 | 9.6
| CHD | 45.9 | 44.0 | 10.1
| GIH | 23.0 | 52.0 | 25.0
| LWK | 4.5 | 32.7 | 62.7
| MEX | 43.9 | 49.1 | 7.0
| MKK | 19.9 | 47.4 | 32.7
| TSI | 29.7 | 46.5 | 23.8
| HapMapRevision=28
}}{{omim
|desc=OVARIAN RESPONSE TO FSH STIMULATION
|id=136435
|rsnum=6165
|variant=0005
}}

{{ neighbor
| rsid = 28928870
| distance = 427
}}

{{Venter SNP
|rsid=6165
|allele=T
|frequency=0.333
|uid=1103658093009
|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.
}}

{{ClinVar
|rsid=6165
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=49191041
|CHROM=2
|GMAF=0.4858
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05016800000017051f110100
|GENEINFO=FSHR:2492
|GENE_NAME=FSHR
|GENE_ID=2492
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.49191041C>T
|CLNORIGIN=1
|CLNSIG=6
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.4858; 0.5142
|CLNACC=RCV000017633.1
|CLNDBN=Ovarian response to FSH stimulation
|CLNDSDB=MedGen
|CLNDSDBID=C1848715
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=136435.0005
|COMMON=1
|Disease=Ovarian response to FSH stimulation
}}

{{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.
}}

{{GET Evidence
|gene=FSHR
|aa_change=Ala281Thr
|aa_change_short=A281T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6165
|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=1
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23139742
|Title=Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes
|OA=1
}}

{{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.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}