chr6:44265183:A>G Detail (hg38) (NFKBIE)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:44,232,920-44,232,920 View the variant detail on this assembly version. |
hg38 | chr6:44,265,183-44,265,183 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004556.2:c.581T>C | NP_004547.2:p.Val194Ala |
Ensemble | ENST00000275015.9:c.581T>C | ENST00000275015.9:p.Val194Ala |
ENST00000619360.6:c.164T>C | ENST00000619360.6:p.Val55Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.216 |
ToMMo:0.221 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.178 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.245 | rheumatoid arthritis | [Our study identified nine loci newly associated with rheumatoid arthritis at a ... | GAD | 22446963 | Detail |
0.245 | rheumatoid arthritis | Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB path... | GWASCAT | 23028356 | Detail |
0.245 | rheumatoid arthritis | Our study identified nine loci newly associated with rheumatoid arthritis at a t... | GWASCAT | 22446963 | Detail |
0.129 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.006 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.248 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.123 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
<0.001 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.168 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.243 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.243 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.243 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
0.123 | rheumatoid arthritis | Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... | BeFree | 23577190 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
[Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0... | DisGeNET | Detail |
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated w... | DisGeNET | Detail |
Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg38
- Position
- chr6:44,265,183-44,265,183
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1198
- Mean of sample read depth (HGVD)
- 86.07
- Standard deviation of sample read depth (HGVD)
- 40.62
- Number of reference allele (HGVD)
- 1878
- Number of alternative allele (HGVD)
- 518
- Allele Frequency (HGVD)
- 0.21619365609348914
- Gene Symbol (HGVD)
- NFKBIE
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2233434
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2208
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3700
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 658
- East Asian Allele Counts (ExAC)
- 117
- East Asian Heterozygous Counts (ExAC)
- 99
- East Asian Homozygous Counts (ExAC)
- 9
- East Asian Allele Frequency (ExAC)
- 0.1778115501519757
- Chromosome Counts in All Race (ExAC)
- 20344
- Allele Counts in All Race (ExAC)
- 720
- Heterozygous Counts in All Race (ExAC)
- 678
- Homozygous Counts in All Race (ExAC)
- 21
- Allele Frequency in All Race (ExAC)
- 0.03539127015336217
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