Annotation Detail

Information
Associated Genes
NOS3 LOC110973015
Associated Variants
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
Metabolic syndrome, susceptibility to
Source Database
ClinVar
Description
NM_000603.5(NOS3):c.-51-762C>T AND Metabolic syndrome, susceptibility to
ClinVar Allele ID
508751
ClinVar RefSeq Alternation Syntax
NM_000603.5:c.-51-762C>T
Clinical Significance Description
protective
Clinical Significance Last Update
2017-06-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000678037
ClinVar Disease
Metabolic syndrome, susceptibility to
Observed Origin Sample
germline
Drugs