Variant (rsID / SNP)

rs2735940

rs2735940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TERT. Location: chromosome 5, position 1,296,486. Clinical significance in the table: Uncertain significance; association.

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Reference-table entries

TERTUncertain significance

Clinical significance (as recorded): Uncertain significance; association
Variant type: single nucleotide variant
Chromosome / position: 5:1296486
Cytoband: 5p15.33
HGVS: NM_198253.2(TERT):c.-1382T>C

Associated conditions / phenotypes

Chronic osteomyelitis|Coronary artery disease, susceptibility to

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.