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rs3791675

From SNPedia

Orientationminus
Stabilizedminus
Make rs3791675(A;A)
Make rs3791675(A;G)
Make rs3791675(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position55884174
GeneEFEMP1
is asnp
is mentioned by
dbSNPrs3791675
ebirs3791675
HLIrs3791675
Exacrs3791675
Varsomers3791675
Maprs3791675
PheGenIrs3791675
hapmaprs3791675
1000 genomesrs3791675
hgdprs3791675
ensemblrs3791675
gopubmedrs3791675
geneviewrs3791675
scholarrs3791675
googlers3791675
pharmgkbrs3791675
gwascentralrs3791675
openSNPrs3791675
23andMers3791675
23andMe allrs3791675
SNP Nexus

SNPshotrs3791675
SNPdbers3791675
MSV3drs3791675
GWAS Ctlgrs3791675
GMAF0.3324
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 18391952OA-icon.png]
Trait Height
Title Genome-wide association analysis identifies 20 loci that influence adult height
Risk Allele C
P-val 2E-12
Odds Ratio 0.09 [0.05-0.12] SD taller - among males
GWAS snp
PMID [PMID 19396169]
Trait Height
Title A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
Risk Allele G
P-val 2E-9
Odds Ratio 0.42 [0.28-0.56] cm increase
GWAS snp
PMID [PMID 19893584]
Trait Height
Title Identification of 15 loci influencing height in a Korean population
Risk Allele G
P-val 0.000004
Odds Ratio 0.45 [NR] cm increase
GWAS snp
PMID [PMID 20397748OA-icon.png]
Trait Height
Title Genome-Wide Association Study of Height and Body Mass Index in Australian Twin Families
Risk Allele C
P-val 3E-7
Odds Ratio 0.09 [0.04-0.14] SD increase


[PMID 19030899OA-icon.png] Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.


[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 20017971OA-icon.png] Assessing the impact of global versus local ancestry in association studies.


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


[PMID 21757498OA-icon.png] Adult height variants affect birth length and growth rate in children.


GET Evidence
rs3791675
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.242188
summary



GWAS snp
PMID [PMID 20881960OA-icon.png]
Trait Height
Title Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Risk Allele T
P-val 3E-35
Odds Ratio .05 [NR] unit decrease