IthaID: 2751



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7170421 HGVS Name: NC_000015.10:g.60341947C>G

Context nucleotide sequence:
CTGTTTGCTTCTCTCTTTCACCCCA [C/G] AGCCCACTCCTTTGAGATAATCCAG (Strand: +)

Also known as: hCV11770326

Comments: SNP associated with osteonecrosis in the Cooperative Study of Sickle Cell Disease (CSSCD) (442 cases; 455 controls).

External Links

Phenotype

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

Location

Chromosome: 15
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: ANXA2
Specific Location: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005 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 2016-05-15 16:49:38, Last reviewed on (Show full history)

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