Variant (rsID / SNP)

rs1667394

rs1667394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HERC2. Location: chromosome 15, position 28,530,182. Clinical significance in the table: association.

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Reference-table entries

HERC2Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 15:28530182
Cytoband: 15q13.1
HGVS: NM_004667.6(HERC2):c.323-4749G>A
Allele change: Silent

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 1

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.