{{Rsnum
|rsid=3791679
|Gene=EFEMP1
|Chromosome=2
|position=55869757
|Orientation=minus
|GMAF=0.3338
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EFEMP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 7.1 | 35.4 | 57.5
| HCB | 58.4 | 37.2 | 4.4
| JPT | 56.2 | 38.4 | 5.4
| YRI | 0.0 | 5.5 | 94.5
| ASW | 0.0 | 5.3 | 94.7
| CHB | 58.4 | 37.2 | 4.4
| CHD | 58.7 | 36.7 | 4.6
| GIH | 5.0 | 33.7 | 61.4
| LWK | 0.0 | 3.6 | 96.4
| MEX | 13.8 | 27.6 | 58.6
| MKK | 1.3 | 19.2 | 79.5
| TSI | 6.9 | 37.6 | 55.4
| HapMapRevision=28
}}
{{PMID Auto GWAS
|PMID=18391951
|Trait=Height
|Title=Many sequence variants affecting diversity of adult human height
|RiskAllele=T
|Pval=6E-11
|OR=5.80
|ORtxt=[4.04-7.56] % SD taller
}}

{{PMID Auto GWAS
|PMID=20189936
|Trait=Height
|Title=A genome-wide association study in 19,633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci
|RiskAllele=A
|Pval=6E-9
|OR=0.07
|ORtxt=[0.05-0.09] cm increase
}}

{{PMID Auto
|PMID=19850834
|Title=A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
|OA=1
}}

{{PMID Auto
|PMID=20027299
|Title=Transferability and fine-mapping of genome-wide associated loci for adult height across human populations.
|OA=1
}}

{{PMID Auto
|PMID=20546612
|Title=The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3791679
|overall_frequency_n=32
|overall_frequency_d=128
|overall_frequency=0.25
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23563607
  |Trait=Height
  |Title=Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
  |RiskAllele=A
  |Pval=8E-16
  |OR=1.22
  |ORtxt=[NR]
  |OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}