Variant (rsID / SNP)

rs79414550

rs79414550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKS6. Location: chromosome 9, position 101,518,825. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ANKS6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:101518825
Cytoband: 9q22.33
HGVS: NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala)
Allele change: Missense_P735A

Associated conditions / phenotypes

Nephronophthisis 16

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.