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rs1394205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1394205(A;A)
Make rs1394205(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position49154446
GeneFSHR
is asnp
is mentioned by
dbSNPrs1394205
dbSNP (classic)rs1394205
ClinGenrs1394205
ebirs1394205
HLIrs1394205
Exacrs1394205
Gnomadrs1394205
Varsomers1394205
LitVarrs1394205
Maprs1394205
PheGenIrs1394205
Biobankrs1394205
1000 genomesrs1394205
hgdprs1394205
ensemblrs1394205
geneviewrs1394205
scholarrs1394205
googlers1394205
pharmgkbrs1394205
gwascentralrs1394205
openSNPrs1394205
23andMers1394205
SNPshotrs1394205
SNPdbers1394205
MSV3drs1394205
GWAS Ctlgrs1394205
GMAF0.3604
Max Magnitude0

aka c.-29G>A

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


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


[PMID 16864747] Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension.


[PMID 18413494OA-icon.png] Hereditary determinants of human hypertension: strategies in the setting of genetic complexity.


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


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


[PMID 25492410] Ovarian hyperstimulation syndrome in a spontaneous pregnancy with invasive mole


ClinVar
Risk rs1394205(A;A)
Alt rs1394205(A;A)
Reference Rs1394205(G;G)
Significance Non-pathogenic
Disease not specified Ovarian hyperstimulation syndrome Ovarian Dysgenesis
Variation info
Gene FSHR
CLNDBN not specified Ovarian hyperstimulation syndrome Ovarian Dysgenesis
Reversed 1
HGVS NC_000002.11:g.49381585C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000125157.2, RCV000308694.1, RCV000407626.1,



[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.