Variant (rsID / SNP)

rs11574129

rs11574129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VDR. Location: chromosome 12, position 48,237,303. 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: 12:48237303
Cytoband: 12q13.11
HGVS: NM_000376.3(VDR):c.*1226T>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.