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rs3791679

From SNPedia

Orientationminus
Stabilizedminus
Make rs3791679(C;C)
Make rs3791679(C;T)
Make rs3791679(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position55869757
GeneEFEMP1
is asnp
is mentioned by
dbSNPrs3791679
ebirs3791679
HLIrs3791679
Exacrs3791679
Varsomers3791679
Maprs3791679
PheGenIrs3791679
hapmaprs3791679
1000 genomesrs3791679
hgdprs3791679
ensemblrs3791679
gopubmedrs3791679
geneviewrs3791679
scholarrs3791679
googlers3791679
pharmgkbrs3791679
gwascentralrs3791679
openSNPrs3791679
23andMers3791679
23andMe allrs3791679
SNP Nexus

SNPshotrs3791679
SNPdbers3791679
MSV3drs3791679
GWAS Ctlgrs3791679
GMAF0.3338
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 18391951]
Trait Height
Title Many sequence variants affecting diversity of adult human height
Risk Allele T
P-val 6E-11
Odds Ratio 5.80 [4.04-7.56] % SD taller
GWAS snp
PMID [PMID 20189936]
Trait Height
Title A genome-wide association study in 19,633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci
Risk Allele A
P-val 6E-9
Odds Ratio 0.07 [0.05-0.09] cm increase


[PMID 19850834OA-icon.png] A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.


[PMID 20027299OA-icon.png] Transferability and fine-mapping of genome-wide associated loci for adult height across human populations.


[PMID 20546612OA-icon.png] The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.


GET Evidence
rs3791679
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.25
summary



GWAS snp
PMID [PMID 23563607OA-icon.png]
Trait Height
Title Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Risk Allele A
P-val 8E-16
Odds Ratio 1.22 [NR]