rs1805006

plus

Geno	Mag	Summary
(A;A)	3	Melanoma risk; red hair
(A;C)	2.5	Red hair carrier, higher risk of melanoma
(C;C)	0	common in complete genomics

Reference

GRCh38 38.1/141

Chromosome

16

Position

89919510

Gene

MC1R

is a	snp
is	mentioned by
dbSNP	rs1805006
dbSNP (classic)	rs1805006
ClinGen	rs1805006
ebi	rs1805006
HLI	rs1805006
Exac	rs1805006
Gnomad	rs1805006
Varsome	rs1805006
LitVar	rs1805006
Map	rs1805006
PheGenI	rs1805006
Biobank	rs1805006
1000 genomes	rs1805006
hgdp	rs1805006
ensembl	rs1805006
geneview	rs1805006
scholar	rs1805006
google	rs1805006
pharmgkb	rs1805006
gwascentral	rs1805006
openSNP	rs1805006
23andMe	rs1805006
SNPshot	rs1805006
SNPdbe	rs1805006
MSV3d	rs1805006
GWAS Ctlg	rs1805006

GMAF

0.004132

Max Magnitude

3

rs1805006, known as Asp84Glu or D84E, is one of several SNPs in the MC1R gene associated with higher risk of melanoma. [PMID 8894704]

The risk allele is rs1805006(A), compared with the wild-type rs1805006(C) allele.

Allelic odds ratio for pale skin(P-value)=5.19(<1.0e-5)MC1R*D84E rs1805006 http://genepi.qimr.edu.au/contents/p/staff/Duffyetal_JID_520-528Jan10.pdf

See also OMIM 155555.0003

OMIM	155555
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs1805006(A;A) rs1805006(G;G)
Alt	Rs1805006(A;A) rs1805006(G;G)
Reference	Rs1805006(C;C)
Significance	Other
Disease	Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility not provided
Variation	info
Gene	MC1R
CLNDBN	Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility not provided
Reversed	0
HGVS	NC_000016.9:g.89985918C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015380.4, RCV000375124.1, RCV000413549.1,

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

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