Rs2228479

From SNPedia
Jump to: navigation, search

Orientationplus
is asnp
is mentioned by
dbSNPrs2228479
PheGenIrs2228479
nextbiors2228479
hapmaprs2228479
1000 genomesrs2228479
hgdprs2228479
ensemblrs2228479
gopubmedrs2228479
geneviewrs2228479
scholarrs2228479
googlers2228479
pharmgkbrs2228479
gwascentralrs2228479
openSNPrs2228479
23andMers2228479
23andMe allrs2228479
SNP Nexus

SNPshotrs2228479
SNPdbers2228479
MSV3drs2228479
GeneMC1R
Chromosome16
Orientationplus
GMAF0.09183
Position89985940
ReferenceGRCh37 37.1/131
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2228479(A;A)
Make rs2228479(A;G)
? (A;A) (A;G) (G;G) 28
rs2228479, known as Val92Met or V92M, is one of several SNPs in the MC1R gene commonly associated with red (or blond) hair and poor tanning, but note its high presence in one Asian population [PMID 7581459, PMID 16463023]

The risk allele is rs2228479(A), compared with the wild-type rs2228479(G) allele.

See also OMIM 155555.0002

Neighborrs1805007
Distance177
Neighborrs1805006
Distance22
OMIM155555
Desc
Variant0002
Relatedalso


ClinVar
Risk rs2228479(A;A)
Alt rs2228479(A;A)
Reference rs2228479(G;G)
Significance 5
Disease Skin/hair/eye pigmentation 2, Skin/hair/eye pigmentation 2
ClinVar info
Gene MC1R
CLNDBN Skin/hair/eye pigmentation 2, red hair/fair skin, Skin/hair/eye pigmentation 2, blond hair/fair skin
Reversed 0
CLNHGVS NC_000016.9:g.89985940G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015378.24, RCV000015379.24



[PMID 17999355OA-icon.png] A genomewide association study of skin pigmentation in a South Asian population.


[PMID 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.


[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.


[PMID 21052032] Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.


[PMID 23744330] [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu]