rs7121
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs7121(C;T) |
| Make rs7121(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 58903752 |
| Gene | GNAS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7121 |
| dbSNP (classic) | rs7121 |
| ClinGen | rs7121 |
| ebi | rs7121 |
| HLI | rs7121 |
| Exac | rs7121 |
| Gnomad | rs7121 |
| Varsome | rs7121 |
| LitVar | rs7121 |
| Map | rs7121 |
| PheGenI | rs7121 |
| Biobank | rs7121 |
| 1000 genomes | rs7121 |
| hgdp | rs7121 |
| ensembl | rs7121 |
| geneview | rs7121 |
| scholar | rs7121 |
| rs7121 | |
| pharmgkb | rs7121 |
| gwascentral | rs7121 |
| openSNP | rs7121 |
| 23andMe | rs7121 |
| SNPshot | rs7121 |
| SNPdbe | rs7121 |
| MSV3d | rs7121 |
| GWAS Ctlg | rs7121 |
| GMAF | 0.3861 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19237173] prostate cancer treatment response rs2279115 and rs7121
[PMID 15564881] Complex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies.
[PMID 16642433
] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[PMID 18454203] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
[PMID 18559376] PTHR1 mutations associated with Ollier disease result in receptor loss of function.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18769151] A sensitive functional assay reveals frequent loss of genomic imprinting in human placenta.
[PMID 18951142] Association of the GNAS locus with severe malaria.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19593725] Association of maternally inherited GNAS alleles with African-American male birth weight.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21737952] Genetic variation in gsalpha protein as a new indicator in screening test for vasovagal syncope.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23962387] Evidence for Genetic Linkage between a Polymorphism in the GNAS gene and Malaria in South Indian Population
| ClinVar | |
|---|---|
| Risk | rs7121(T;T) |
| Alt | rs7121(T;T) |
| Reference | Rs7121(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | GNAS |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000020.10:g.57478807C>T |
| CLNSRC | |
| CLNACC | RCV000178784.1, |
[PMID 31386280] Development of an integrated platform using multidisciplinary real-world data to facilitate biomarker discovery for medical products.
