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rs1805086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs1805086(A;G)
Make rs1805086(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position190060351
GeneC2orf88, MSTN
is asnp
is mentioned by
dbSNPrs1805086
ebirs1805086
HLIrs1805086
Exacrs1805086
Varsomers1805086
Maprs1805086
PheGenIrs1805086
hapmaprs1805086
1000 genomesrs1805086
hgdprs1805086
ensemblrs1805086
gopubmedrs1805086
geneviewrs1805086
scholarrs1805086
googlers1805086
pharmgkbrs1805086
gwascentralrs1805086
openSNPrs1805086
23andMers1805086
23andMe allrs1805086
SNP Nexus

SNPshotrs1805086
SNPdbers1805086
MSV3drs1805086
GWAS Ctlgrs1805086
GMAF0.06107
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 21283721OA-icon.png] The K153R Polymorphism in the Myostatin Gene and Muscle Power Phenotypes in Young, Non-Athletic Men


[PMID 19237423OA-icon.png] Is there an optimum endurance polygenic profile?


GET Evidence
MSTN-K153R
aa_change Lys153Arg
aa_change_short K153R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0802492
summary



[PMID 23354683OA-icon.png] Association of the K153R polymorphism in the myostatin gene and extreme longevity.


ClinVar
Risk rs1805086(G;G)
Alt rs1805086(G;G)
Reference rs1805086(A;A)
Significance Pathogenic
Disease Muscle hypertrophy
Variation info
Gene C2orf88 MSTN
CLNDBN Muscle hypertrophy
Reversed 1
HGVS NC_000002.11:g.190925077T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055914.1,