chr11:27677041:C>T Detail (hg19) (BDNF)

Information

Genome

Assembly Position
hg19 chr11:27,677,041-27,677,041
hg38 chr11:27,655,494-27,655,494 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001709.4:c.*2327G>A
NM_170731.4:c.*2327G>A
NM_170732.4:c.*2327G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.955
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 113505 OMIM
HGNC 1033 HGNC
Ensembl ENSG00000176697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42009973 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
0.003 asthma Analysis stratified by asthma-related phenotype revealed an association between ... BeFree 22468730 Detail
0.006 asthma Analysis stratified by asthma-related phenotype revealed an association between ... BeFree 22468730 Detail
<0.001 Completed Suicide Since our previous work on completed suicide in Slavic population showed an asso... BeFree 26115627 Detail
Annotation

Annotations

DescrptionSourceLinks
Analysis stratified by asthma-related phenotype revealed an association between atopy and NGFR (rs37... DisGeNET Detail
Analysis stratified by asthma-related phenotype revealed an association between atopy and NGFR (rs37... DisGeNET Detail
Since our previous work on completed suicide in Slavic population showed an association of the funct... 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
-
dbSNP
rs7124442 dbSNP
Genome
hg19
Position
chr11:27,677,041-27,677,041
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs7124442
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9554
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16011
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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