Variant (rsID / SNP)

rs145708722

rs145708722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGTR1. Location: chromosome 3, position 148,459,130. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AGTR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:148459130
Cytoband: 3q24
HGVS: NM_000685.5(AGTR1):c.308T>C (p.Ile103Thr)
Allele change: Missense_I103T

Associated conditions / phenotypes

Renal tubular dysgenesis

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.