rs1800451 Rat Genome Database

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Variant: rs1800451 -  Homo sapiens

RGD ID: 8564204
RS ID: rs1800451
ClinVar ID: CV29390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBL2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 54,531,226
GRCh38 10 52,771,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_154t1:c.170G>A
LRG_154:g.5235G>A
NG_008196.1:g.5235G>A
NC_000010.11:g.52771466C>T
More... 		08/05/2022 missense variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Chronic infections, due to MBL deficiency; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1; Mannose-binding protein deficiency; MBL DEFICIENCY; MBL2 DEFICIENCY; MBP DEFICIENCY; none provided
Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV29390Humanblood protein measurement  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:35078996

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV29390Humanblood protein measurement  IAGP 405850206 GWAS_CATALOGPMID:35078996
CV29390Humanlevel of calcipressin-3 in blood serum  IAGP 405850206 GWAS_CATALOGPMID:35870639
CV29390Humanmannose-binding protein C measurement  IAGP 405850206 GWAS_CATALOGPMID:29875488
Disease Annotations     Click to see Annotation Detail View

Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS542532_H GCST90241872 Mannose-binding protein C levels (MBL2.3000.66.1) 3,301 European ancestry individuals T 0.022 2E-51 50.699 rs1800451 1.22 mannose-binding protein C measurement (EFO:0008224)
 PMID:29875488
GWAS589928_H GCST90248506 Mannose-binding protein C levels 10,708 European ancestry individuals T 0.02 1E-110 110 rs1800451 1.057 mannose-binding protein C measurement (EFO:0008224)
 PMID:34648354
GWAS638193_H GCST90235423 Calcipressin-3 level in Chronic kidney disease with hypertension and no diabetes (20442_12) 466 African American individuals T 0.21 8E-20 19.097 rs1800451 0.66 PMID:35870639
GWAS854393_H GCST90088178 Serum levels of protein MBL2 5,368 Icelandic ancestry individuals T 0.01105 2E-49 48.699 rs1800451 1.29498 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS929906_H GCST90237191 Mannose-binding protein C level in Chronic kidney disease with hypertension and no diabetes (3000_66) 466 African American individuals T 0.22 1E-69 69 rs1800451 1.07 mannose-binding protein C measurement (EFO:0008224)
 PMID:35870639
GWAS934105_H GCST90161583 Mannose-binding protein C levels 2,935 Qatari ancestry individuals T 0.0349233 3E-22 21.523 rs1800451 0.72902 mannose-binding protein C measurement (EFO:0008224)
 PMID:36168886

Variant Details
Variant Transcripts
Gene Symbol:MBL2
Accession:NM_000242
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKEEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_001378373
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKEEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*

Gene Symbol:MBL2
Accession:NM_001378374
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFPSLPLLLLSMVAASYSETVTCEDAQKTCPAVIACSSPGINGFPGKDGRDGTKEEKGEPGQGLRGLQGPPGKLGPPG
NPGPSGSPGPKGQKGDPGKSPDGDSSLAASERKALQTEMARIKKWLTFSLGKQVGNKFFLTNGEIMTFEKVKALCVKFQA
SVATPRNAAENGAIQNLIKEEAFLGITDEKTEGQFVDLTGNRLTYTNWNEGEPNNAGSDEDCVLLLKNGQWNDVPCSTSH
LAVCEFPI*
Variant Samples
Additional References at PubMed
PMID:1304173   PMID:8206524   PMID:14568388   PMID:16395391   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015425 CLINVAR
  RCV000455297 CLINVAR
  RCV001642227 CLINVAR
dbSNP (RS) rs1800451 CLINVAR
GWAS Catalog GCST005806 GWAS Catalog
MedGen C3280586 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MBL2 CLINVAR
OMIM 154545 CLINVAR
  614372 CLINVAR
OMIM Allele 154545.0002 CLINVAR