rs231775 Rat Genome Database

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Variant: rs231775 -  Homo sapiens

RGD ID: 8600370
RS ID: rs231775
ClinVar ID: CV31960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTLA4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 204,732,714
GRCh38 2 203,867,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011502.1:g.5206A>G
NC_000002.12:g.203867991A>G
NC_000002.11:g.204732714A>G
NP_005205.2:p.Thr17Ala
More... 		12/08/2020 missense|missense variant risk factor|benign AllHighlyPenetrant; Autoimmune lymphoproliferative syndrome 5; Autoimmune lymphoproliferative syndrome type V; Celiac disease 3; CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3; IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION; 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
GCST004866 Alopecia areata 2,332 European ancestry cases and 5,233 European ancestry controls G NR 2E-20 19.69897000433602 Illumina [1233578] (imputed) 1.4 alopecia areata (EFO:0004192)
 PMID:25608926
GCST010571 Autoimmune thyroid disease 30,234 European ancestry cases, 724,172 European ancestry controls G 0.385 2E-74 73.69897000433602 Affymetrix, Illumina [42900000] (imputed) 1.18 autoimmune thyroid disease (EFO:0006812)
 PMID:32581359

Variant Details
Variant Transcripts
Gene Symbol:CTLA4
Accession:NM_005214
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLAARTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDS
DFLLWILAAVSSGLFFYSFLLTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN*

Gene Symbol:CTLA4
Accession:NM_001037631
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFQRHKAQLNLAARTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEYASPGKATEVRVTVLRQADSQ
VTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLRAMDTGLYICKVELMYPPPYYLGIGNGTQIYVIAKEKKPSY
NRGLCENAPNRARM*
Variant Samples
Additional References at PubMed
PMID:8817351   PMID:9259273   PMID:9398726   PMID:10189842   PMID:10475192   PMID:11098935   PMID:11158025   PMID:15138458   PMID:15301861   PMID:15688186   PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018423 CLINVAR
  RCV000018424 CLINVAR
  RCV000018425 CLINVAR
  RCV000018427 CLINVAR
  RCV000455037 CLINVAR
  RCV001255201 CLINVAR
  RCV001517779 CLINVAR
  RCV001723578 CLINVAR
dbSNP (RS) rs231775 CLINVAR
GWAS Catalog GCST004866 GWAS Catalog
  GCST010571 GWAS Catalog
MedGen C1857845 CLINVAR
  C3661900 CLINVAR
  C3862275 CLINVAR
  C4015214 CLINVAR
  CN169374 CLINVAR
NCBI Gene CTLA4 CLINVAR
OMIM 123890 CLINVAR
  609755 CLINVAR
  616100 CLINVAR
OMIM Allele 123890.0001 CLINVAR