rs6521 Rat Genome Database

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Variant: rs6521 -  Homo sapiens

RGD ID: 13533815
RS ID: rs6521
ClinVar ID: CV508928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 49,519,873
GRCh38 19 49,016,616
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033041.1:g.27718G>C
LRG_1361p1:p.Val38=
NP_000885.1:p.Val38=
NP_000885.1:p.Val38=
More... 		08/19/2021 synonymous variant benign FERTILE EUNUCH SYNDROME; Hypogonadotropic hypogonadism 23 with or without anosmia; HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; none provided; PASQUALINI SYNDROME
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90012103 Bioavailable testosterone levels 178,782 European ancestry men C 0.5672189999999999 1E-10 10.0 Affymetrix [16577424] (imputed) 0.0193524 testosterone measurement (EFO:0004908)
 PMID:32042192

Variant Details
Variant Transcripts
Gene Symbol:LHB
Accession:NM_000894
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEMLQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRVLQAVLPPLPQVVCTYR
DVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL*

Gene Symbol:LHB
Accession:XM_047438832
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRPGLGAAVSDLGEAVSLSQGLLLLLLLSMGGAWASREPLRPWCHPINAILAVEKEGCPVCITVNTTICAGYCPTMMRV
LQAVLPPLPQVVCTYRDVRFESIRLPGCPRGVDPVVSFPVALSCRCGPCRRSTSDCGGPKDHPLTCDHPQLSGLLFL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000612318 CLINVAR
  RCV001683607 CLINVAR
dbSNP (RS) rs6521 CLINVAR
GWAS Catalog GCST90012103 GWAS Catalog
MedGen C0271582 CLINVAR
  C3661900 CLINVAR
NCBI Gene LHB CLINVAR
OMIM 152780 CLINVAR
  228300 CLINVAR
SNOMED CT 8829008 CLINVAR