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
Links
Type Database ID Link
Gene MIM 604548 OMIM
HGNC 7799 HGNC
Ensembl ENSG00000146232 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25195098 TogoVar
COSMIC COSM4998033 COSMIC
MONDO
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

DescrptionSourceLinks
[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 &lt; 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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