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rs11547464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.5 red hair
(A;G) 3 red hair carrier
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome16
Position89919683
GeneMC1R
is asnp
is mentioned by
dbSNPrs11547464
dbSNP (classic)rs11547464
ClinGenrs11547464
ebirs11547464
HLIrs11547464
Exacrs11547464
Gnomadrs11547464
Varsomers11547464
LitVarrs11547464
Maprs11547464
PheGenIrs11547464
Biobankrs11547464
1000 genomesrs11547464
hgdprs11547464
ensemblrs11547464
geneviewrs11547464
scholarrs11547464
googlers11547464
pharmgkbrs11547464
gwascentralrs11547464
openSNPrs11547464
23andMers11547464
SNPshotrs11547464
SNPdbers11547464
MSV3drs11547464
GWAS Ctlgrs11547464
GMAF0.003673
Max Magnitude3.5

This missense mutation influences red hair color and has been observed in the Spanish maternal ancestry of User:Corpas son.


[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.

GWAS snp
PMID [PMID 30531825OA-icon.png]
Trait Hair color
Title Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Risk Allele A
P-val 3E-50
Odds Ratio


ClinVar
Risk Rs11547464(A;A)
Alt Rs11547464(A;A)
Reference Rs11547464(G;G)
Significance Probable-non-pathogenic
Disease Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility
Variation info
Gene MC1R
CLNDBN Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility
Reversed 0
HGVS NC_000016.9:g.89986091G>A
CLNSRC
CLNACC RCV000227554.2, RCV000344548.1,