rs10835638
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common |
| (G;T) | intermediate serum FSH level among males | |
| (T;T) | lower serum FSH level among males |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 30230805 |
| Gene | FSHB, LOC105376607 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10835638 |
| dbSNP (classic) | rs10835638 |
| ClinGen | rs10835638 |
| ebi | rs10835638 |
| HLI | rs10835638 |
| Exac | rs10835638 |
| Gnomad | rs10835638 |
| Varsome | rs10835638 |
| LitVar | rs10835638 |
| Map | rs10835638 |
| PheGenI | rs10835638 |
| Biobank | rs10835638 |
| 1000 genomes | rs10835638 |
| hgdp | rs10835638 |
| ensembl | rs10835638 |
| geneview | rs10835638 |
| scholar | rs10835638 |
| rs10835638 | |
| pharmgkb | rs10835638 |
| gwascentral | rs10835638 |
| openSNP | rs10835638 |
| 23andMe | rs10835638 |
| SNPshot | rs10835638 |
| SNPdbe | rs10835638 |
| MSV3d | rs10835638 |
| GWAS Ctlg | rs10835638 |
| GMAF | 0.08632 |
| Max Magnitude | 0 |
rs10835638, aka c.-280G>T or −211G>T in some publications, is a SNP located in the (upstream) regulatory region of the follicle stimulating hormone FSHB gene which may influence hormone levels.
A quantitative genetic association study of 550+ healthy Estonian men (average age 19) found that rs10835638 was significantly associated with serum FSH level (analysis of variance: F = 13.0, P = 0.0016, df = 1; regression testing for a linear trend: P = 0.0003).
Subjects with the (G;G) genotype had higher FSH levels (3.37 +/- 1.79 IU/l, n = 423) compared with (G;T) heterozygotes (2.84 +/- 1.54 IU/l, n = 125) (p = 0.0005) or (T;T) homozygotes (2.02 +/- 0.81 IU/L, n = 6) (P = 0.031). rs10835638 was also associated with significant reduction in free testosterone index and testes volume, but increased semen volume, sex hormone-binding globulin, serum testosterone and estradiol LH and inhibin-B levels did not differ significantly between groups.[PMID 18567894
]
[PMID 19897680] Increased Prevalance of the -211 T Allele of Follicle Stimulating Hormone (FSH) {beta} Subunit Promoter Polymorphism and Lower Serum FSH in Infertile Men
[PMID 22791757] Combined Effects of the Variants FSHB -211G/T and FSHR 2039A>G on Male Reproductive Parameters
[PMID 23118424] Effects of the FSH-β-Subunit Promoter Polymorphism -211G->T on the Hypothalamic-Pituitary-Ovarian Axis in Normally Cycling Women Indicate a Gender-Specific Regulation of Gonadotropin Secretion
[PMID 25052309] The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
| ClinVar | |
|---|---|
| Risk | Rs10835638(T;T) |
| Alt | Rs10835638(T;T) |
| Reference | Rs10835638(G;G) |
| Significance | Other |
| Disease | isolated follicle-stimulating hormone deficiency |
| Variation | info |
| Gene | FSHB |
| CLNDBN | isolated follicle-stimulating hormone deficiency |
| Reversed | 0 |
| HGVS | NC_000011.9:g.30252352G>T |
| CLNSRC | ClinVar Gromoll Lab |
| CLNACC | RCV000128411.2, |
[PMID 28764642] The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.
