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Variant (rsID / SNP)

rs200095793

SLC34A1

rs200095793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A1. Location: chromosome 5, position 176,820,765. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC34A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:176820765
Cytoband
5q35.3
HGVS
NM_003052.5(SLC34A1):c.1006+1G>A
Allele change
Silent

Associated conditions / phenotypes

Hypercalcemia, infantile, 2|Hypophosphatemic nephrolithiasis/osteoporosis 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.