IthaID: 3519


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs11859733 HGVS Name: NC_000016.10:g.58297869T>C

Context nucleotide sequence:
TGATTTTTTGTCTGCTTGACCTATCGA [T>C] CATTCAGAAAGGTGCCTCCTATTATA (Strand: +)

Also known as:

Comments: SNP associated with a lower red blood cell count in the Kore Association Resource (KARE) project of the Korean Genome Epidemiology Study (KoGES; n=8842). The association was replicated in healthy samples from the Cardio Vascular Disease Association Study (CAVAS) of KoGES (n=3667).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal red blood cell count [HP:0020058]

Location

Chromosome: 16
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: PRSS54-RNU6-269P
Specific Location: N/A

Other details

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

Publications / Origin

  1. Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015
Created on 2019-12-09 09:22:11, Last reviewed on (Show full history)

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