Rs1805007

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Orientationplus
is asnp
is mentioned by
dbSNPrs1805007
PheGenIrs1805007
nextbiors1805007
hapmaprs1805007
1000 genomesrs1805007
hgdprs1805007
ensemblrs1805007
gopubmedrs1805007
geneviewrs1805007
scholarrs1805007
googlers1805007
pharmgkbrs1805007
gwascentralrs1805007
openSNPrs1805007
23andMers1805007
23andMe allrs1805007
SNP Nexus

SNPshotrs1805007
SNPdbers1805007
MSV3drs1805007
GeneMC1R
Chromosome16
Orientationplus
GMAF0.0303
Position89919709
ReferenceGRCh38 38.1/141
Max Magnitude3.2
Geno Mag Summary
(C;C) 0 normal risk
(C;T) 2 increased response to anesthetics
(T;T) 3.2 increased response to anesthetics; 13-20x higher likelihood of red hair
? (C;C) (C;T) (T;T) 28
rs1805007, known as Arg151Cys or R151C, one of several SNPs in the MC1R gene associated with red hair color (redheads), and in redheaded females, linked to being more responsive to the anesthetics pentazocine, nalbuphine, and butorphanol, often used by dentists [PMID 9571181, PMID 12663858, PMID 18488028]

The risk allele is rs1805007(T), compared with the wild-type rs1805007(C) allele.

The risk allele has also been reported in several studies to be associated with increased risk for melanoma. For example, an odds ratio of 2.94 (CI: 1.04-8.31) has been reported for an Italian population [PMID 16567973], and similarly an odds ratio of 2.9 has been reported for a Polish population [PMID 16988943].

Blog entry about designing melanocortin analogs specific to these genotypes.

See also OMIM 155555.0004

Neighborrs2228479
Distance177
Neighborrs1805008
Distance27
GWAS snp
PMID [PMID 17952075]
Trait Blond vs. brown hair
Title Genetic determinants of hair, eye and skin pigmentation in Europeans
Risk Allele T
P-val 2.0000000000000001E-13
Odds Ratio 2.34 [1.69-3.24]
OMIM266300
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2
Variant
Relatedalso
OMIM155555
Desc
Variant0004
Relatedalso
[PMID 21700618OA-icon.png] Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma


ClinVar
Risk rs1805007(G,T;G,T)
Alt rs1805007(G,T;G,T)
Reference rs1805007(C;C)
Significance 255
Disease Skin/hair/eye pigmentation 2, Increased analgesia from kappa-opioid receptor agonist, OCULOCUTANEOUS ALBINISM, Parkinson disease
ClinVar info
Gene MC1R
CLNDBN Skin/hair/eye pigmentation 2, red hair/fair skin, Increased analgesia from kappa-opioid receptor agonist, female-specific, OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF, Parkinson disease, late-onset, susceptibility to
Reversed 0
CLNHGVS NC_000016.9:g.89986117C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015385.24, RCV000015386.20, RCV000015387.24, RCV000015388.1



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


[PMID 19884608OA-icon.png] Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.


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


[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.


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

Freckling


[PMID 23393597OA-icon.png] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study

GWAS snp
PMID [PMID 23548203]
Trait Hair color
Title Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Risk Allele C
P-val 3E-9
Odds Ratio .16 [0.10-0.22] unit decrease