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rs1805006

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome16
Position89919510
GeneMC1R
is asnp
is mentioned by
dbSNPrs1805006
ebirs1805006
HLIrs1805006
Exacrs1805006
Varsomers1805006
Maprs1805006
PheGenIrs1805006
hapmaprs1805006
1000 genomesrs1805006
hgdprs1805006
ensemblrs1805006
gopubmedrs1805006
geneviewrs1805006
scholarrs1805006
googlers1805006
pharmgkbrs1805006
gwascentralrs1805006
openSNPrs1805006
23andMers1805006
23andMe allrs1805006
SNP Nexus

SNPshotrs1805006
SNPdbers1805006
MSV3drs1805006
GWAS Ctlgrs1805006
GMAF0.004132
Max Magnitude3
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

Neighborrs1805005
Distance74
Neighborrs2228479
Distance22
OMIM155555
Desc
Variant0003
Relatedalso


ClinVar
Risk rs1805006(A,G;A,G)
Alt rs1805006(A,G;A,G)
Reference rs1805006(C;C)
Significance Other
Disease Cutaneous malignant melanoma 5
Variation info
Gene MC1R
CLNDBN Cutaneous malignant melanoma 5
Reversed 0
HGVS NC_000016.9:g.89985918C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015380.3,



[PMID 17999355OA-icon.png] 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.