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rs2228478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2228478(A;G)
Make rs2228478(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89920200
GeneMC1R, TUBB3
is asnp
is mentioned by
dbSNPrs2228478
dbSNP (classic)rs2228478
ClinGenrs2228478
ebirs2228478
HLIrs2228478
Exacrs2228478
Gnomadrs2228478
Varsomers2228478
LitVarrs2228478
Maprs2228478
PheGenIrs2228478
Biobankrs2228478
1000 genomesrs2228478
hgdprs2228478
ensemblrs2228478
geneviewrs2228478
scholarrs2228478
googlers2228478
pharmgkbrs2228478
gwascentralrs2228478
openSNPrs2228478
23andMers2228478
SNPshotrs2228478
SNPdbers2228478
MSV3drs2228478
GWAS Ctlgrs2228478
GMAF0.2002
Max Magnitude0

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


[PMID 15660291OA-icon.png] Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.


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


[PMID 18654799OA-icon.png] Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.


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


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


ClinVar
Risk rs2228478(G;G)
Alt rs2228478(G;G)
Reference Rs2228478(A;A)
Significance Non-pathogenic
Disease not specified Malignant Melanoma Susceptibility
Variation info
Gene TUBB3 MC1R
CLNDBN not specified Malignant Melanoma Susceptibility
Reversed 0
HGVS NC_000016.9:g.89986608A>G
CLNSRC
CLNACC RCV000253346.1, RCV000394014.1,