Have questions? Visit https://www.reddit.com/r/SNPedia

rs3827760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 straighter, thicker hair, and increased odds of having shovel-shaped incisors
(C;T) 1 increased odds of straighter, thicker hair as well as shovel-shaped incisors
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position108897145
GeneEDAR
is asnp
is mentioned by
dbSNPrs3827760
ebirs3827760
HLIrs3827760
Exacrs3827760
Varsomers3827760
Maprs3827760
PheGenIrs3827760
hapmaprs3827760
1000 genomesrs3827760
hgdprs3827760
ensemblrs3827760
gopubmedrs3827760
geneviewrs3827760
scholarrs3827760
googlers3827760
pharmgkbrs3827760
gwascentralrs3827760
openSNPrs3827760
23andMers3827760
23andMe allrs3827760
SNP Nexus

SNPshotrs3827760
SNPdbers3827760
MSV3drs3827760
GWAS Ctlgrs3827760
GMAF0.2902
Max Magnitude2

rs3827760, also known as 1540T/C, 370A or Val370Ala, is a SNP in the ectodysplasin A receptor EDAR gene on chromosome 2. The EDAR gene is involved in ectodermal development.

The rs3827760(C) allele is far more prevalent in East Asians than in any other population, and it is used as such in ancestry tests [PMID 22749789]. There are at least three physical characteristics that have been linked to this allele, and pretty much all in a copy-dependent manner as well (inheriting both alleles leads to a stronger expression than inheriting one):

10.1038/ncomms10815 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

? (C;C) (C;T) (T;T) 28

gnxp hair thickness for asians

gnxp blog tooth shape among asians

A picture of shovel shaped incisors is at http://www.flickr.com/photos/39602184@N02/3747590190/

OMIM612630
DescHAIR MORPHOLOGY 1; HRM1
Variant
Relatedalso
OMIM604095
DescECTODYSPLASIN A RECEPTOR; EDAR
Variant
Relatedalso
[PMID 19804850OA-icon.png] A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors
OMIM604095
Desc
Variant0011
Relatedalso


[PMID 22648185] Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits


ClinVar
Risk rs3827760(C;C)
Alt rs3827760(C;C)
Reference rs3827760(T;T)
Significance Other
Disease Hair morphology 1 not specified
Variation info
Gene EDAR
CLNDBN Hair morphology 1, hair thickness not specified
Reversed 1
HGVS NC_000002.11:g.109513601A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006216.3, RCV000174399.1,



[PMID 16255080OA-icon.png] A haplotype map of the human genome.


[PMID 18561327] Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.


[PMID 18817904OA-icon.png] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.


[PMID 19737746OA-icon.png] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.


GET Evidence
EDAR-V370A
aa_change Val370Ala
aa_change_short V370A
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0105968
summary Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific.



[PMID 22749789] Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies.