rs885479
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 2 | lighter skin color |
(G;G) | 2 | darker skin color |
Make rs885479(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 89919746 |
Gene | MC1R |
is a | snp |
is | mentioned by |
dbSNP | rs885479 |
dbSNP (classic) | rs885479 |
ClinGen | rs885479 |
ebi | rs885479 |
HLI | rs885479 |
Exac | rs885479 |
Gnomad | rs885479 |
Varsome | rs885479 |
LitVar | rs885479 |
Map | rs885479 |
PheGenI | rs885479 |
Biobank | rs885479 |
1000 genomes | rs885479 |
hgdp | rs885479 |
ensembl | rs885479 |
geneview | rs885479 |
scholar | rs885479 |
rs885479 | |
pharmgkb | rs885479 |
gwascentral | rs885479 |
openSNP | rs885479 |
23andMe | rs885479 |
SNPshot | rs885479 |
SNPdbe | rs885479 |
MSV3d | rs885479 |
GWAS Ctlg | rs885479 |
GMAF | 0.2401 |
Max Magnitude | 2 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 23744330] [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu]
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 19503611] The role of geography in human adaptation.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 21052032] Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.
[PMID 23771755] Improved eye- and skin-color prediction based on 8 SNPs.
[PMID 27488084] Melanocortin-1 Receptor Polymorphisms and the Risk of Complicated Sepsis After Trauma: A Candidate Gene Association Study.
ClinVar | |
---|---|
Risk | Rs885479(A;A) |
Alt | Rs885479(A;A) |
Reference | Rs885479(G;G) |
Significance | Non-pathogenic |
Disease | not specified Malignant Melanoma Susceptibility |
Variation | info |
Gene | MC1R |
CLNDBN | not specified Malignant Melanoma Susceptibility |
Reversed | 0 |
HGVS | NC_000016.9:g.89986154G>A |
CLNSRC | |
CLNACC | RCV000248045.1, RCV000263355.1, |
[PMID 31488411] MC1R Variation in a New Mexico Population.