Variant (rsID / SNP)

rs731236

rs731236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VDR. Location: chromosome 12, position 48,238,757. Clinical significance in the table: Benign.

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Reference-table entries

VDRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:48238757
Cytoband: 12q13.11
HGVS: NM_000376.3(VDR):c.1056T>C (p.Ile352=)
Allele change: Synonymous_I352I

Associated conditions / phenotypes

Vitamin D-dependent rickets type II with alopecia|Hepatocellular carcinoma

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.