rs3769818 Rat Genome Database

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Variant: rs3769818 -  Homo sapiens

RGD ID: 127310016
RS ID: rs3769818
ClinVar ID: CV1153949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 202,151,163
GRCh38 2 201,286,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_34t3:c.1305-19A>G
NM_001080124.2:c.1260-19A>G
NM_033356.4:c.1260-19A>G
NM_001372051.1:c.1305-19A>G
More... 		12/05/2020 intron variant benign AllHighlyPenetrant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; Caspase-8 deficiency; none provided
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
GCST90013410 Basal cell carcinoma 17,416 European ancestry cases, 375,455 European ancestry controls A 0.267833 7E-47 46.15490195998574 Affymetrix [7260263] (imputed) 0.17051235 basal cell carcinoma (EFO:0004193)
 PMID:33549134
GCST90002320 Lymphocyte count 643,370 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals G 0.719772 2E-49 48.69897000433602 Affymetrix, Illumina [23472807] (imputed) N/A lymphocyte count (EFO:0004587)
 PMID:32888493

Variant Details
Variant Transcripts
Gene Symbol:CASP8
Accession:NM_001400663
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400674
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400664
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400657
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400670
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001080124
Location:INTRON

Gene Symbol:CASP8
Accession:NM_033355
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400669
Location:INTRON

Gene Symbol:CASP8
Accession:XM_047445961
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400665
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400645
Location:INTRON

Gene Symbol:CASP8
Accession:NM_033356
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400680
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400654
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001372051
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400676
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400667
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400673
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400750
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400658
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400648
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400660
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400677
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400661
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400653
Location:INTRON

Gene Symbol:CASP8
Accession:XM_011511969
Location:INTRON

Gene Symbol:CASP8
Accession:XM_047445960
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400659
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400679
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400662
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400642
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400678
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001080125
Location:INTRON

Gene Symbol:CASP8
Accession:XM_005246893
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400672
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400651
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400656
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400668
Location:INTRON

Gene Symbol:CASP8
Accession:XM_047445959
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400751
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400671
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400675
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001228
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400655
Location:INTRON

Gene Symbol:CASP8
Accession:NM_001400666
Location:INTRON

Gene Symbol:CASP8
Accession:NR_174598
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174564
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_111983
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174582
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174581
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174591
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:XR_007082538
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174596
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174589
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174588
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174585
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174593
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:XR_007082539
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174565
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174599
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174594
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174584
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174592
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174590
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174600
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174601
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174595
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174586
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174602
Location:INTRON;NON-CODING

Gene Symbol:CASP8
Accession:NR_174583
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001518112 CLINVAR
  RCV001712930 CLINVAR
  RCV003394096 CLINVAR
dbSNP (RS) rs3769818 CLINVAR
GWAS Catalog GCST90002320 GWAS Catalog
MedGen C1846545 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CASP8 CLINVAR
OMIM 601763 CLINVAR
  607271 CLINVAR