Variant (rsID / SNP)

rs2276092

rs2276092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMCHD1. Location: chromosome 18, position 2,707,619. Clinical significance in the table: Benign.

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Reference-table entries

SMCHD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:2707619
Cytoband: 18p11.32
HGVS: NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile)
Allele change: Missense_V708I

Associated conditions / phenotypes

Facioscapulohumeral muscular dystrophy 2|Arrhinia with choanal atresia and microphthalmia syndrome

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.