Variant (rsID / SNP)

rs121909793

rs121909793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VDR. Location: chromosome 12, position 48,258,868. Clinical significance in the table: Pathogenic.

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Reference-table entries

VDRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:48258868
Cytoband: 12q13.11
HGVS: NM_000376.3(VDR):c.239G>A (p.Arg80Gln)
Allele change: Missense_R80Q

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.