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Variant (rsID / SNP)

rs1805008

MC1R

rs1805008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,986,144. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MC1RConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:89986144
Cytoband
16q24.3
HGVS
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)
Allele change
Missense_R160W

Associated conditions / phenotypes

Skin/hair/eye pigmentation 2, red hair/fair skin|OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF|Increased analgesia from kappa-opioid receptor agonist, female-specific|Melanoma, cutaneous malignant, susceptibility to, 5|Malignant tumor of breast

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.