IthaID: 2944

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name:  rs2228570 HGVS Name: NG_008731.1:g.30920T>C

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: SNP associated with bone mineral density in individuals with β-thalassaemia major (n=64).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Osteoporosis [HP:0000939] [OMIM:166710]


Chromosome: 12
Locus: NG_008731.1
Locus Location: 30920
Size: 1 bp
Located at: VDR
Specific Location: Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

  1. Dimitriadou M, Christoforidis A, Fidani L, Economou M, Vlachaki E, Athanassiou-Metaxa M, Katzos G, A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major., Osteoporos Int , 27(2), 781-8, 2016 PubMed
Created on 2016-08-09 13:02:32, Last reviewed on 2016-08-09 13:04:07 (Show full history)

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