Variant (rsID / SNP)

rs56382517

rs56382517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VDR. Location: chromosome 12, position 48,237,109. Clinical significance in the table: Uncertain significance.

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Reference-table entries

VDRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:48237109
Cytoband: 12q13.11
HGVS: NM_000376.3(VDR):c.*1420T>C
Allele change: Silent

Associated conditions / phenotypes

Vitamin D-dependent rickets type II with alopecia

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.