Variant (rsID / SNP)

rs1060501417

rs1060501417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,591,961. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ENGPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:130591961
Cytoband: 9q34.11
HGVS: NM_001114753.3(ENG):c.360+5G>C
Allele change: Silent

Associated conditions / phenotypes

Hereditary hemorrhagic telangiectasia

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.