Variant (rsID / SNP)

rs2302787

rs2302787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRELD1. Location: chromosome 3, position 9,979,713. Clinical significance in the table: Benign.

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Reference-table entries

CRELD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:9979713
Cytoband: 3p25.3
HGVS: NM_001077415.3(CRELD1):c.383C>G (p.Pro128Arg)
Allele change: Missense_P128R

Associated conditions / phenotypes

Atrioventricular septal defect, susceptibility to, 2

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.