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Variant (rsID / SNP)

rs144760517

SARS2

rs144760517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SARS2. Location: chromosome 19, position 39,416,898. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:39416898
Cytoband
19q13.2
HGVS
NM_017827.4(SARS2):c.310C>T (p.Arg104Trp)
Allele change
Missense_R104W

Associated conditions / phenotypes

Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

Public references

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