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rs7121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs7121(C;T)
Make rs7121(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58903752
GeneGNAS
is asnp
is mentioned by
dbSNPrs7121
ebirs7121
HLIrs7121
Exacrs7121
Varsomers7121
Maprs7121
PheGenIrs7121
hapmaprs7121
1000 genomesrs7121
hgdprs7121
ensemblrs7121
gopubmedrs7121
geneviewrs7121
scholarrs7121
googlers7121
pharmgkbrs7121
gwascentralrs7121
openSNPrs7121
23andMers7121
23andMe allrs7121
SNP Nexus

SNPshotrs7121
SNPdbers7121
MSV3drs7121
GWAS Ctlgrs7121
GMAF0.3861
Max Magnitude0
? (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 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.

[PMID 18454203OA-icon.png] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

[PMID 18559376OA-icon.png] PTHR1 mutations associated with Ollier disease result in receptor loss of function.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18769151OA-icon.png] A sensitive functional assay reveals frequent loss of genomic imprinting in human placenta.

[PMID 18951142OA-icon.png] Association of the GNAS locus with severe malaria.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19593725OA-icon.png] Association of maternally inherited GNAS alleles with African-American male birth weight.

[PMID 20565774OA-icon.png] 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 22388798OA-icon.png] 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,