Variant (rsID / SNP)

rs12032814

rs12032814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to H6PD. Location: chromosome 1, position 9,307,230. Clinical significance in the table: Benign.

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Reference-table entries

H6PDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:9307230
Cytoband: 1p36.22
HGVS: NM_004285.4(H6PD):c.745+88T>A
Allele change: Silent

Associated conditions / phenotypes

Cortisone reductase deficiency 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.