Variant (rsID / SNP)

rs28362692

rs28362692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AQP1. Location: chromosome 7, position 30,951,658. Clinical significance in the table: Benign.

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Reference-table entries

AQP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:30951658
Cytoband: 7p14.3
HGVS: NM_198098.4(AQP1):c.134C>T (p.Ala45Val)
Allele change: Missense_A45V

Associated conditions / phenotypes

COLTON BLOOD GROUP POLYMORPHISM

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.