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rs1385699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.5 slightly less likely to go bald
(C;T)  ?
(T;T) 2 increased risk of baldness
ReferenceGRCh38 38.1/141
ChromosomeX
Position66605144
GeneEDA2R
is asnp
is mentioned by
dbSNPrs1385699
ebirs1385699
HLIrs1385699
Exacrs1385699
Varsomers1385699
Maprs1385699
PheGenIrs1385699
hapmaprs1385699
1000 genomesrs1385699
hgdprs1385699
ensemblrs1385699
gopubmedrs1385699
geneviewrs1385699
scholarrs1385699
googlers1385699
pharmgkbrs1385699
gwascentralrs1385699
openSNPrs1385699
23andMers1385699
23andMe allrs1385699
SNP Nexus

SNPshotrs1385699
SNPdbers1385699
MSV3drs1385699
GWAS Ctlgrs1385699
GMAF0.3102
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs1385699, also known as Arg57Lys, is a SNP in the ectodysplasin A2 receptor EDAR2 gene. This gene is located on the X chromosome.

The rs1385699(T) allele, which is the most common in European populations, was found to be associated with androgenetic alopecia in a case-control study of 400 males. [PMID 18385763]


[PMID 15902657OA-icon.png] Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia.


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


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


[PMID 20352079OA-icon.png] Genomic and geographic distribution of private SNPs and pathways in human populations.


GET Evidence
EDA2R-R57K
aa_change Arg57Lys
aa_change_short R57K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.558384
summary