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KRGDB specifications


Unique identifier OMICS_21650
Alternative name Korean Reference Genome DB
Restrictions to use None
Database management system MySQL
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained No

Additional information

KRGDB citations


Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS

Transl Oncol
PMCID: 5884183
PMID: 29413759
DOI: 10.1016/j.tranon.2018.01.005

[…] germline variants from candidates of somatic variants were filtered out with common dbSNP (141 found in >1% of samples), Exome Aggregation Consortium (ExAC; r0.3.1), Korean Reference Genome database (KRGDB) and in-house panel of normals , . Final somatic variants were annotated using Variant Effect Predictor (version 79) and were then converted to maf file format using vcf2maf ( […]


Targeted next generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis

PMCID: 5779785
PMID: 29505016
DOI: 10.1097/MD.0000000000009677

[…] B gene (Fig. ). This novel mutation was not found in public population sequence databases such as 1000 Genomes Project Database, ESP6500, and ExAC, as well as in Korean population sequence databases (KRGDB, Any (likely) pathogenic variants were not identified in other 4 HS-associated genes according to the American College of Medicine and Genetics g […]


Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis

PLoS One
PMCID: 5744964
PMID: 29281699
DOI: 10.1371/journal.pone.0190077

[…], the 1000 Genomes Project (, the Exome Aggregation Consortium (ExAC, and the Korean Reference Genome Database (KRGDB,, which contains whole genome sequencing data for 622 Korean individuals [–]. […]


The First South Korean case of combined oxidative phosphorylation deficiency 17 diagnosed by clinical and molecular investigation

PMCID: 5752642
PMID: 29302266
DOI: 10.3345/kjp.2017.60.12.408

[…] maging using the in silico analysis (SIFT 0.029, prediction: damaging, MutationTaster 0.97, prediction: disease causing). The variant was detected in the control population with a frequency of 0.24% (KRGDB). The proline at position 32 is a highly conserved amino acid residue among different species (). This mutation was inherited from her father. The additional variant could not be identified by S […]


The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf South Koreans

Int J Mol Sci
PMCID: 5713216
PMID: 29072634
DOI: 10.3390/ijms18112246

[…] ntly low MAF of p.V116M and p.V291L, based on the UCSC genome browser (, which was 0.150% and 0.005% respectively. In addition, the MAF of p.V116M and p.V291L, based on 1000G/KRGDB, was 0%/0% and 0.06%/0.08%, respectively. If the two variants are completely unrelated then it would be extremely unlikely for these two variants to be in the same allele. Alternatively, it is a […]


Apolipoprotein ε7 allele in memory complaints: insights through protein structure prediction

PMCID: 5513808
PMID: 28744113
DOI: 10.2147/CIA.S131172

[…] medical center were categorized under the control group. In addition to 345 control subjects, a search was also carried out for the occurrence of the APOE ε7 allele in the KRGD (; however, no variants at positions 244 and 245 were found to correspond to APOE ε7. Consequently, no APOE ε7 allele was identified in the 967 control subjects. Two indiv […]


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