Variant (rsID / SNP)

rs1800897

rs1800897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX2. Location: chromosome 10, position 102,568,872. Clinical significance in the table: Benign.

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Reference-table entries

PAX2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:102568872
Cytoband: 10q24.31
HGVS: NM_000278.5(PAX2):c.798C>T (p.Asn266=)
Allele change: Synonymous_N297N

Associated conditions / phenotypes

Renal coloboma syndrome|Focal segmental glomerulosclerosis 7

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.