rs138843544 Rat Genome Database

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Variant: rs138843544 -  Homo sapiens

RGD ID: 11621814
RS ID: rs138843544
ClinVar ID: CV339585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 63,363,490
GRCh38 15 63,071,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007557.1:g.33653T>C
NC_000015.10:g.63071291T>C
NC_000015.9:g.63363490T>C
NM_001018020.2:c.*119T>C
More... 		06/14/2016 3 prime utr variant likely benign HYPERTROPHIC MYOCARDIOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
GCST90002395 Mean platelet volume 408,112 British individuals C 0.033986 4E-18 17.397940008672037 Affymetrix [93095623] (imputed) 0.058146387 mean platelet volume (EFO:0004584)
 PMID:32888494
GCST90002402 Platelet count 408,112 British individuals C 0.033988 1E-10 10.0 Affymetrix [93095623] (imputed) 0.043145567 platelet count (EFO:0004309)
 PMID:32888494

Variant Details
Variant Transcripts
Gene Symbol:TPM1
Accession:NM_001018006
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001365778
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407326
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001330351
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001365776
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407336
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407338
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001407337
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018004
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018008
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001330344
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018020
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001301289
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NM_001018007
Location:3UTRS;EXON

Gene Symbol:TPM1
Accession:NR_176343
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176338
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176350
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176352
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176340
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176348
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176353
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176346
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176344
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176349
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176342
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176337
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NM_001407329
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407332
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365779
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365777
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407341
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407327
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365782
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365780
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407331
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407333
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407328
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407340
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330346
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407325
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:XM_047433001
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407334
Location:INTRON

Gene Symbol:TPM1
Accession:NM_000366
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407323
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407335
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407324
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407342
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365781
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018005
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001301244
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407322
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407330
Location:INTRON

Gene Symbol:TPM1
Accession:NR_176345
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176351
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176341
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176339
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176347
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000352469 CLINVAR
  RCV000390726 CLINVAR
  RCV001552801 CLINVAR
dbSNP (RS) rs138843544 CLINVAR
GWAS Catalog GCST90002395 GWAS Catalog
  GCST90002402 GWAS Catalog
MedGen C0007194 CLINVAR
  C3661900 CLINVAR
  CN239310 CLINVAR
NCBI Gene TPM1 CLINVAR
OMIM 191010 CLINVAR