rs1042579 Rat Genome Database

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Variant: rs1042579 -  Homo sapiens

RGD ID: 11617271
RS ID: rs1042579
ClinVar ID: CV334922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THBD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 23,028,724
GRCh38 20 23,048,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_168t1:c.1418C>T
LRG_168:g.6578C>T
NG_012027.1:g.6578C>T
NC_000020.11:g.23048087G>A
More... 		12/04/2020 missense variant benign|uncertain significance AHUS, SUSCEPTIBILITY TO, 6; Atypical hemolytic-uremic syndrome 6; Atypical HUS; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; 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
GCST90012048 Thrombomodulin levels 21,758 European ancestry individuals A 0.2 2E-318 317.69897000433605 Affymetrix, Illumina [20300000] (imputed) 0.3965 thrombomodulin measurement (EFO:0007774)
 PMID:33067605
GCST90274915 TM levels 961 individuals ? NR 3E-11 10.522878745280337 Illumina [11901634] (imputed) 1.31578 thrombomodulin measurement (EFO:0007774)
 PMID:28915241
GCST90179445 Thrombomodulin levels 2,858 Greek (founder/geneitc isolate) individuals ? NR 9E-59 58.045757490560675 Illumina [30481946] 0.6575 thrombomodulin measurement (EFO:0007774)
 PMID:36349687

Variant Details
Variant Transcripts
Gene Symbol:THBD
Accession:NM_000361
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 473
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGG
VGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEV
KADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAP
GAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQ
HRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHE
PHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALVRHIGTDC
DSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKE
VVLQHVRTERTPQRL*
Variant Samples
Additional References at PubMed
PMID:9157575   PMID:9236408   PMID:11245641   PMID:12139752   PMID:15574195   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000302594 CLINVAR
  RCV001516722 CLINVAR
  RCV001643035 CLINVAR
  RCV002294300 CLINVAR
  RCV003969973 CLINVAR
dbSNP (RS) rs1042579 CLINVAR
GWAS Catalog GCST90012048 GWAS Catalog
MedGen C2752036 CLINVAR
  C2931788 CLINVAR
  C2986382 CLINVAR
  C3661900 CLINVAR
NCBI Gene THBD CLINVAR
OMIM 188040 CLINVAR
  612926 CLINVAR
OMIM Allele 188040.0008 CLINVAR