Variant (rsID / SNP)

rs7828

rs7828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,619,014. Clinical significance in the table: Benign.

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Reference-table entries

JAG1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:10619014
Cytoband: 20p12.2
HGVS: NM_000214.3(JAG1):c.*1132T>G
Allele change: Silent

Associated conditions / phenotypes

Isolated Nonsyndromic Congenital Heart Disease

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.