chr8:6877877:C>T Detail (hg38) (DEFB1)

Information

Genome

Assembly Position
hg19 chr8:6,735,399-6,735,399 View the variant detail on this assembly version.
hg38 chr8:6,877,877-6,877,877

HGVS

Type Transcript Protein
RefSeq NM_005218.3:c.-20G>A
Ensemble ENST00000297439.4:c.-20G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.443
ToMMo:0.420
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.377

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602056 OMIM
HGNC 2766 HGNC
Ensembl ENSG00000164825 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31984546 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 leprosy A study was done on the association of three single nucleotide polymorphisms (SN... BeFree 19460328 Detail
Annotation

Annotations

DescrptionSourceLinks
A study was done on the association of three single nucleotide polymorphisms (SNPs) in the beta-defe... 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
chr8:6,877,877-6,877,877
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
79.32
Standard deviation of sample read depth (HGVD)
35.57
Number of reference allele (HGVD)
932
Number of alternative allele (HGVD)
742
Allele Frequency (HGVD)
0.4432497013142174
Gene Symbol (HGVD)
DEFB1
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))
rs11362
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4203
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7044
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
3254
East Asian Heterozygous Counts (ExAC)
2052
East Asian Homozygous Counts (ExAC)
601
East Asian Allele Frequency (ExAC)
0.3772316253188036
Chromosome Counts in All Race (ExAC)
121108
Allele Counts in All Race (ExAC)
51515
Heterozygous Counts in All Race (ExAC)
29087
Homozygous Counts in All Race (ExAC)
11214
Allele Frequency in All Race (ExAC)
0.4253641377943654
Genome browser