Variant (rsID / SNP)

rs1426654

rs1426654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC24A5, MYEF2. Location: chromosome 15, position 48,426,484. Clinical significance in the table: association.

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Reference-table entries

SLC24A5Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 15:48426484
Cytoband: 15q21.1
HGVS: NM_205850.3(SLC24A5):c.331= (p.Thr111=)
Allele change: Missense_T111A

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 4

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.