Variant (rsID / SNP)

rs56237316

rs56237316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAM17. Location: chromosome 2, position 9,637,331. Clinical significance in the table: Benign.

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Reference-table entries

ADAM17Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:9637331
Cytoband: 2p25.1
HGVS: NM_003183.6(ADAM17):c.1695T>C (p.Thr565=)
Allele change: Synonymous_T565T

Associated conditions / phenotypes

Inflammatory skin and bowel disease, neonatal, 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.