Variant (rsID / SNP)

rs139870667

rs139870667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMCN1. Location: chromosome 1, position 186,088,412. Clinical significance in the table: Benign.

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Reference-table entries

HMCN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:186088412
Cytoband: 1q31.1
HGVS: NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met)
Allele change: Missense_V3980M

Associated conditions / phenotypes

Age related macular degeneration 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.