Variant (rsID / SNP)

rs1805005

rs1805005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,985,844. Clinical significance in the table: Benign.

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Reference-table entries

MC1RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:89985844
Cytoband: 16q24.3
HGVS: NM_002386.4(MC1R):c.178G>T (p.Val60Leu)
Allele change: Missense_V60L

Associated conditions / phenotypes

Skin/hair/eye pigmentation 2, blond hair/fair skin|Melanoma, cutaneous malignant, susceptibility to, 5|Malignant tumor of breast

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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