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rs6165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6165(A;A)
Make rs6165(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48963902
GeneFSHR
is asnp
is mentioned by
dbSNPrs6165
ebirs6165
HLIrs6165
Exacrs6165
Varsomers6165
Maprs6165
PheGenIrs6165
hapmaprs6165
1000 genomesrs6165
hgdprs6165
ensemblrs6165
gopubmedrs6165
geneviewrs6165
scholarrs6165
googlers6165
pharmgkbrs6165
gwascentralrs6165
openSNPrs6165
23andMers6165
23andMe allrs6165
SNP Nexus

SNPshotrs6165
SNPdbers6165
MSV3drs6165
GWAS Ctlgrs6165
GMAF0.4858
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM136435
DescOVARIAN RESPONSE TO FSH STIMULATION
Variant0005
Relatedalso
Neighborrs28928870
Distance427


Venter snp
Source plos
Gene FSHR
allele T
frequency 0.333
sift TOLERATED
HuRef 1103658093009
Disease Association 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
Risk rs6165(A;A)
Alt rs6165(A;A)
Reference rs6165(G;G)
Significance Drug-response
Disease Ovarian response to FSH stimulation
Variation info
Gene FSHR
CLNDBN Ovarian response to FSH stimulation
Reversed 1
HGVS NC_000002.11:g.49191041C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017633.3,



[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.


GET Evidence
FSHR-A281T
aa_change Ala281Thr
aa_change_short A281T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23139742OA-icon.png] Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes


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