IthaID: 2787

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4808793 HGVS Name: NC_000019.10:g.18383027G>C

Context nucleotide sequence:

Also known as:

Comments: SNP associated with increased GDF15 levels, which had a suppressive effect on serum hepcidin levels in β-thalassaemia patients from India (n=134).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal hepcidin level [HP:0031875]


Chromosome: 19
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: GDF15
Specific Location: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Athiyarath R, George B, Mathews V, Srivastava A, Edison ES, Association of growth differentiation factor 15 (GDF15) polymorphisms with serum GDF15 and ferritin levels in β-thalassemia., Ann. Hematol. , 93(12), 2093-5, 2014 PubMed
Created on 2016-05-16 15:18:15, Last reviewed on 2016-09-12 12:48:52 (Show full history)

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