rs2228478

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs2228478(A;G)

Make rs2228478(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89920200

Gene	MC1R, TUBB3

is a	snp
is	mentioned by
dbSNP	rs2228478
dbSNP (classic)	rs2228478
ClinGen	rs2228478
ebi	rs2228478
HLI	rs2228478
Exac	rs2228478
Gnomad	rs2228478
Varsome	rs2228478
LitVar	rs2228478
Map	rs2228478
PheGenI	rs2228478
Biobank	rs2228478
1000 genomes	rs2228478
hgdp	rs2228478
ensembl	rs2228478
geneview	rs2228478
scholar	rs2228478
google	rs2228478
pharmgkb	rs2228478
gwascentral	rs2228478
openSNP	rs2228478
23andMe	rs2228478
SNPshot	rs2228478
SNPdbe	rs2228478
MSV3d	rs2228478
GWAS Ctlg	rs2228478

GMAF

0.2002

Max Magnitude

0

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

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

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

[PMID 18654799 ] 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 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.

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,