MCID: WHT020
MIFTS: 8

White Blood Cell Count Quantitative Trait Locus 1

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for White Blood Cell Count Quantitative Trait Locus 1

MalaCards integrated aliases for White Blood Cell Count Quantitative Trait Locus 1:

Name: White Blood Cell Count Quantitative Trait Locus 1 57 29 6 40
Wbcq1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
homozygosity for the common west african allele (rs2814778) eliminates expression of the duffy blood group antigen and explains approximately 20% of population variation in white blood cell count (wbc)


Classifications:



External Ids:

OMIM 57 611862

Summaries for White Blood Cell Count Quantitative Trait Locus 1

MalaCards based summary : White Blood Cell Count Quantitative Trait Locus 1, is also known as wbcq1. An important gene associated with White Blood Cell Count Quantitative Trait Locus 1 is ACKR1 (Atypical Chemokine Receptor 1 (Duffy Blood Group)).

Description from OMIM: 611862

Related Diseases for White Blood Cell Count Quantitative Trait Locus 1

Symptoms & Phenotypes for White Blood Cell Count Quantitative Trait Locus 1

Symptoms via clinical synopsis from OMIM:

57
Hematology:
neutropenia, benign


Clinical features from OMIM:

611862

Drugs & Therapeutics for White Blood Cell Count Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for White Blood Cell Count Quantitative Trait Locus 1

Genetic Tests for White Blood Cell Count Quantitative Trait Locus 1

Genetic tests related to White Blood Cell Count Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 White Blood Cell Count Quantitative Trait Locus 1 29 ACKR1

Anatomical Context for White Blood Cell Count Quantitative Trait Locus 1

Publications for White Blood Cell Count Quantitative Trait Locus 1

Variations for White Blood Cell Count Quantitative Trait Locus 1

ClinVar genetic disease variations for White Blood Cell Count Quantitative Trait Locus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACKR1 NM_002036.3(ACKR1): c.-67T> C single nucleotide variant Pathogenic,protective rs2814778 GRCh37 Chromosome 1, 159174683: 159174683
2 ACKR1 NM_002036.3(ACKR1): c.-67T> C single nucleotide variant Pathogenic,protective rs2814778 GRCh38 Chromosome 1, 159204893: 159204893

Expression for White Blood Cell Count Quantitative Trait Locus 1

Search GEO for disease gene expression data for White Blood Cell Count Quantitative Trait Locus 1.

Pathways for White Blood Cell Count Quantitative Trait Locus 1

GO Terms for White Blood Cell Count Quantitative Trait Locus 1

Sources for White Blood Cell Count Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....