IthaID: 2764

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3812163 HGVS Name: NC_000006.12:g.7725527A>T

Context nucleotide sequence:

Also known as:

Comments: SNP associated with osteonecrosis/avascular necrosis in individuals of West African and African Caribbean descent with sickle cell disease (39 cases; 205 controls).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805]


Chromosome: 6
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: BMP6
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: West African, African Caribbean
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Ulug P, Vasavda N, Awogbade M, Cunningham J, Menzel S, Thein SL, Association of sickle avascular necrosis with bone morphogenic protein 6., Ann. Hematol. , 88(8), 803-5, 2009 PubMed
  2. Lettre G, The search for genetic modifiers of disease severity in the β-hemoglobinopathies., Cold Spring Harb Perspect Med , 2(10), , 2012 PubMed
Created on 2016-05-16 09:58:23, Last reviewed on (Show full history)

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