rs757918171 Rat Genome Database

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Variant: rs757918171 -  Homo sapiens

RGD ID: 152026758
RS ID: rs757918171
ClinVar ID: CV1540245
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 66,287,069
GRCh38 11 66,519,598
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024649.5:c.592-19C>T
NG_009093.1:g.13951C>T
NC_000011.10:g.66519598C>T
NC_000011.9:g.66287069C>T
 11/27/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS1
Accession:NM_024649
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002104664 CLINVAR
dbSNP (RS) rs757918171 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene BBS1 CLINVAR
OMIM 209901 CLINVAR
SNOMED CT 5619004 CLINVAR