rs149133270 Rat Genome Database

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Variant: rs149133270 -  Homo sapiens

RGD ID: 15200756
RS ID: rs149133270
ClinVar ID: CV727315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC106694316  MPO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 56,351,017
GRCh38 17 58,273,656
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000250.2:c.1379G>A
NG_009629.1:g.12280G>A
NG_044960.1:g.1502C>T
NC_000017.11:g.58273656C>T
More... 		08/24/2021 missense variant likely benign|conflicting interpretations of pathogenicity none provided
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
GCST90002398 Neutrophil count 408,112 British individuals T 0.00122999999999995 2E-10 9.698970004336019 Affymetrix [93095623] (imputed) 0.1991646 neutrophil count (EFO:0004833)
 PMID:32888494
GCST90025977 Neutrophil count 443,782 European ancestry individuals ? NR 5E-10 9.301029995663981 NR [9800000] (imputed) 0.184354 neutrophil count (EFO:0004833)
 PMID:34226706
GCST90025985 White blood cell count 444,734 European ancestry individuals ? NR 1E-8 8.0 NR [9800000] (imputed) 0.160997 leukocyte count (EFO:0004308)
 PMID:34226706

Variant Details
Variant Transcripts
Gene Symbol:MPO
Accession:NM_000250
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVPFFSSLRCMVDLGPCWAGGLTAEMKLLLALAGLLAILATPQPSEGAAPAVLGEVDTSLVLSSMEEAKQLVDKAYKER
RESIKQRLRSGSASPMELLSYFKQPVAATRTAVRAADYLHVALDLLERKLRSLWRRPFNVTDVLTPAQLNVLSKSSGCAY
QDVGVTCPEQDKYRTITGMCNNRRSPTLGASNRAFVRWLPAEYEDGFSLPYGWTPGVKRNGFPVALARAVSNEIVRFPTD
QLTPDQERSLMFMQWGQLLDHDLDFTPEPAARASFVTGVNCETSCVQQPPCFPLKIPPNDPRIKNQADCIPFFRSCPACP
GSNITIRNQINALTSFVDASMVYGSEEPLARNLRNMSNQLGLLAVNQRFQDNGRALLPFDNLHDDPCLLTNRSARIPCFL
AGDTRSSEMPELTSMHTLLLREHNRLATELKSLNPRWDGERLYQEARKIVGAMVQIITYQDYLPLVLGPTAMRKYLPTYR
SYNDSVDPRIANVFTNAFRYGHTLIQPFMFRLDNRYQPMEPNPRVPLSRVFFASWRVVLEGGIDPILRGLMATPAKLNRQ
NQIAVDEIRERLFEQVMRIGLDLPALNMQRSRDHGLPGYNAWRRFCGLPQPETVGQLGTVLRNLKLARKLMEQYGTPNNI
DIWMGGVSEPLKRKGRVGPLLACIIGTQFRKLRDGDRFWWENEGVFSMQQRQALAQISLPRIICDNTGITTVSKNNIFMS
NSYPRDFVNCSTLPALNLASWREAS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000890999 CLINVAR
  RCV003930791 CLINVAR
dbSNP (RS) rs149133270 CLINVAR
GWAS Catalog GCST90002398 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene 106694316 CLINVAR
  MPO CLINVAR
OMIM 606989 CLINVAR