chr11:27700125:C>T Detail (hg19) (BDNF)

Information

Genome

Assembly Position
hg19 chr11:27,700,125-27,700,125
hg38 chr11:27,678,578-27,678,578 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001143810.1:c.-58-4236G>A
NM_001143806.1:c.-21-19993G>A
NM_001143814.1:c.-128-19652G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.596
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 tgv42010548 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
0.120 Mental Depression However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response ... BeFree 19236730 Detail
0.248 depressive disorder However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response ... BeFree 19236730 Detail
0.108 attention deficit hyperactivity disorder [For overt aggressive impulsivity nominal significance was shown for 6 SNPs from... GAD 18937842 Detail
Annotation

Annotations

DescrptionSourceLinks
However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response over 6 wk in clinica... DisGeNET Detail
However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response over 6 wk in clinica... DisGeNET Detail
[For overt aggressive impulsivity nominal significance was shown for 6 SNPs from BDNF, DRD4, HTR1E, ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7103411 dbSNP
Genome
hg19
Position
chr11:27,700,125-27,700,125
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))
rs7103411
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5965
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9996
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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