chr11:27679916:C>T Detail (hg19) (BDNF, BDNF-AS)

Information

Genome

Assembly Position
hg19 chr11:27,679,916-27,679,916
hg38 chr11:27,658,369-27,658,369 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001143807.1:c.196G>A NP_001137279.1:p.Val66Met
NM_170732.4:c.196G>A NP_733928.1:p.Val66Met
NM_001709.4:c.196G>A NP_001700.2:p.Val66Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.412
ToMMo:0.409
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.486

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv42010110 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2022-12-13 no assertion criteria provided Memory impairment, susceptibility to germline Detail
Benign 2013-06-18 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
Likely risk allele 2023-12-11 no assertion criteria provided post-traumatic stress disorder inherited Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.042 major depressive disorder We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
0.002 major depressive disorder We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
0.002 Unipolar Depression We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
0.022 Unipolar Depression We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleo... BeFree 20014955 Detail
<0.001 Common Migraine Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273... BeFree 24708359 Detail
<0.001 migraine with aura Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273... BeFree 24708359 Detail
0.002 major depressive disorder To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs27... BeFree 23137999 Detail
0.002 Unipolar Depression To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs27... BeFree 23137999 Detail
<0.001 Mood Disorders Four of the most consistently replicated variants associated with mood disorder ... BeFree 24944871 Detail
0.251 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.791 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.159 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.400 obesity Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... BeFree 21527513 Detail
0.003 major depressive disorder The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.003 Unipolar Depression The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2R... BeFree 20226536 Detail
0.282 Alzheimer's disease Association of rs6265 and rs2030324 polymorphisms in brain-derived neurotrophic ... BeFree 24733169 Detail
0.012 Mental Depression Finally, using functional magnetic resonance imaging, we found that viewing sad ... BeFree 21215389 Detail
0.248 depressive disorder Finally, using functional magnetic resonance imaging, we found that viewing sad ... BeFree 21215389 Detail
0.120 Mental Depression Finally, using functional magnetic resonance imaging, we found that viewing sad ... BeFree 21215389 Detail
0.004 depressive disorder Finally, using functional magnetic resonance imaging, we found that viewing sad ... BeFree 21215389 Detail
0.022 Unipolar Depression We examined the influence of C-281A (rs28383487) and val66met (rs6265) functiona... BeFree 21103954 Detail
0.042 major depressive disorder We examined the influence of C-281A (rs28383487) and val66met (rs6265) functiona... BeFree 21103954 Detail
<0.001 Depressive episode, unspecified To investigate whether the brain-derived neurotrophic factor (BDNF) polymorphism... BeFree 21037213 Detail
0.020 multiple sclerosis Preservation of gray matter volume in multiple sclerosis patients with the Met a... BeFree 17656372 Detail
0.120 Mental Depression Given that BDNF secretion is affected by a common polymorphism (rs6265, Val66Met... BeFree 21577214 Detail
0.159 obesity Variants in BDNF, in particular the functional Val66Met polymorphism (rs6265), h... BeFree 24708359 Detail
0.008 Impaired cognition We investigated whether a common Val66Met missense polymorphism (rs6265) of the ... BeFree 24660789 Detail
0.017 Mental disorders Variants in BDNF, in particular the functional Val66Met polymorphism (rs6265), h... BeFree 24708359 Detail
0.248 depressive disorder Given that BDNF secretion is affected by a common polymorphism (rs6265, Val66Met... BeFree 21577214 Detail
0.296 schizophrenia Association of the brain-derived neurotrophic factor gene G196A rs6265 polymorph... BeFree 23923080 Detail
0.248 depressive disorder The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depress... BeFree 17632285 Detail
0.120 Mental Depression The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depress... BeFree 17632285 Detail
0.017 Mental disorders Several polymorphisms in BDNF have been reported and studied in psychiatric diso... BeFree 19603419 Detail
0.282 Alzheimer's disease A functional polymorphism in the coding region of brain-derived neurotrophic fac... BeFree 16054753 Detail
<0.001 Violence The objective of the present study was to identify, in a case-control study, whe... BeFree 21491204 Detail
<0.001 Violence The objective of the present study was to identify, in a case-control study, whe... BeFree 21491204 Detail
0.132 schizophrenia This study aimed to investigate the potential association of netrin G1 (NTNG1) r... BeFree 21641949 Detail
<0.001 Psychiatric symptom The extensively examined BDNF gene Val66Met (or rs6265) variant has been associa... BeFree 17894414 Detail
0.017 Mental disorders In present study, 342 patients who met DSM-IV (Diagnostic and Statistical Manual... BeFree 22548711 Detail
<0.001 paranoid schizophrenia The authors genotyped val66met (rs6265) polymorphism of the BDNF gene in 208 inp... BeFree 23487199 Detail
0.003 post-traumatic stress disorder The objective of the present study was to identify, in a case-control study, whe... BeFree 21491204 Detail
0.012 Alcoholic Intoxication, Chronic The BDNF polymorphism Val66Met (rs6265) has been studied in the context of etiol... BeFree 21640793 Detail
0.017 Mental disorders Two hundred and six patients with Diagnostic and Statistical Manual of Mental Di... BeFree 21188787 Detail
0.120 Mental Depression Two hundred and six patients with Diagnostic and Statistical Manual of Mental Di... BeFree 21188787 Detail
0.248 depressive disorder Two hundred and six patients with Diagnostic and Statistical Manual of Mental Di... BeFree 21188787 Detail
0.042 major depressive disorder Common genetic variants, such as the brain-derived neurotrophic factor (BDNF) Va... BeFree 22844024 Detail
0.017 Mental disorders A single-nucleotide polymorphism (rs6265) in the human gene, resulting in a vali... BeFree 19424874 Detail
0.120 Mental Depression However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response ... BeFree 19236730 Detail
<0.001 Melancholia About 62% of patients exhibiting the allelic combination of GG-GG-TT for rs6265,... BeFree 25769916 Detail
0.248 depressive disorder However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response ... BeFree 19236730 Detail
0.159 obesity In summary, BDNF rs6265 is differentially associated with obesity risk by sex an... BeFree 23326649 Detail
0.296 schizophrenia Brain-derived neurotrophic factor blood levels are decreased in schizophrenia pa... BeFree 24713399 Detail
<0.001 Psoriasis vulgaris In conclusions, the combined effect of BDNF rs6265 genotype (GG) and higher BMI ... BeFree 25052186 Detail
0.120 Mental Depression A genetic variant (rs6265) of the brain-derived neurotrophic factor (BDNF) impac... BeFree 25998702 Detail
0.020 multiple sclerosis [Preservation of gray matter volume in multiple sclerosis patients with the Met ... GAD 17656372 Detail
0.022 Unipolar Depression Common genetic variants, such as the brain-derived neurotrophic factor (BDNF) Va... BeFree 22844024 Detail
0.248 depressive disorder A genetic variant (rs6265) of the brain-derived neurotrophic factor (BDNF) impac... BeFree 25998702 Detail
0.022 Unipolar Depression Our findings support the association of BDNF single nucleotide polymorphism rs62... BeFree 17632285 Detail
0.042 major depressive disorder Our findings support the association of BDNF single nucleotide polymorphism rs62... BeFree 17632285 Detail
0.282 Alzheimer's disease [The findings support the association of several loci with AD, and suggest how i... GAD 20574532 Detail
<0.001 Completed Suicide Since our previous work on completed suicide in Slavic population showed an asso... BeFree 26115627 Detail
0.153 obesity Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
<0.001 Obesity, Abdominal Our study replicates the statistically significant association of four SNPs (FTO... BeFree 23424664 Detail
0.153 obesity Among those previously identified SNPs, we selected six (rs7138803, rs1805081, r... BeFree 20843981 Detail
0.400 obesity Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
<0.001 Obesity, Abdominal Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
0.791 obesity Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... BeFree 23424664 Detail
<0.001 Metabolic syndrome X Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally a... BeFree 24269186 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001709.5(BDNF):c.196G>A (p.Val66Met) AND Memory impairment, susceptibility to ClinVar Detail
NM_001709.5(BDNF):c.196G>A (p.Val66Met) AND not specified ClinVar Detail
NM_001709.5(BDNF):c.196G>A (p.Val66Met) AND not provided ClinVar Detail
NM_001709.5(BDNF):c.[*1785G>T;-21-14109C>G196G>A] AND Post-traumatic stress disorder ClinVar Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
We genotyped the BDNF gene Val66Met (rs6265) polymorphism and four single-nucleotide polymorphisms (... DisGeNET Detail
Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273363) were genotyped ... DisGeNET Detail
Five SNPs in the BDNF locus (rs1519480, rs6265, rs712507, rs2049046, and rs12273363) were genotyped ... DisGeNET Detail
To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs2769605 and rs1565445)... DisGeNET Detail
To examine whether the polymorphisms of BDNF (rs6265) and NTRK2 (rs1387923, rs2769605 and rs1565445)... DisGeNET Detail
Four of the most consistently replicated variants associated with mood disorder occur in genes impor... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Ar... DisGeNET Detail
Association of rs6265 and rs2030324 polymorphisms in brain-derived neurotrophic factor gene with Alz... DisGeNET Detail
Finally, using functional magnetic resonance imaging, we found that viewing sad faces evoked greater... DisGeNET Detail
Finally, using functional magnetic resonance imaging, we found that viewing sad faces evoked greater... DisGeNET Detail
Finally, using functional magnetic resonance imaging, we found that viewing sad faces evoked greater... DisGeNET Detail
Finally, using functional magnetic resonance imaging, we found that viewing sad faces evoked greater... DisGeNET Detail
We examined the influence of C-281A (rs28383487) and val66met (rs6265) functional polymorphisms in B... DisGeNET Detail
We examined the influence of C-281A (rs28383487) and val66met (rs6265) functional polymorphisms in B... DisGeNET Detail
To investigate whether the brain-derived neurotrophic factor (BDNF) polymorphism (rs6265, Val66Met) ... DisGeNET Detail
Preservation of gray matter volume in multiple sclerosis patients with the Met allele of the rs6265 ... DisGeNET Detail
Given that BDNF secretion is affected by a common polymorphism (rs6265, Val66Met), which also is ass... DisGeNET Detail
Variants in BDNF, in particular the functional Val66Met polymorphism (rs6265), have been found to be... DisGeNET Detail
We investigated whether a common Val66Met missense polymorphism (rs6265) of the BDNF gene is associa... DisGeNET Detail
Variants in BDNF, in particular the functional Val66Met polymorphism (rs6265), have been found to be... DisGeNET Detail
Given that BDNF secretion is affected by a common polymorphism (rs6265, Val66Met), which also is ass... DisGeNET Detail
Association of the brain-derived neurotrophic factor gene G196A rs6265 polymorphisms and the cogniti... DisGeNET Detail
The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Ameri... DisGeNET Detail
The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Ameri... DisGeNET Detail
Several polymorphisms in BDNF have been reported and studied in psychiatric disorders but the most f... DisGeNET Detail
A functional polymorphism in the coding region of brain-derived neurotrophic factor (BDNF) gene (196... DisGeNET Detail
The objective of the present study was to identify, in a case-control study, whether the brain-deriv... DisGeNET Detail
The objective of the present study was to identify, in a case-control study, whether the brain-deriv... DisGeNET Detail
This study aimed to investigate the potential association of netrin G1 (NTNG1) rs628117 and brain-de... DisGeNET Detail
The extensively examined BDNF gene Val66Met (or rs6265) variant has been associated with schizophren... DisGeNET Detail
In present study, 342 patients who met DSM-IV (Diagnostic and Statistical Manual of Mental Disorders... DisGeNET Detail
The authors genotyped val66met (rs6265) polymorphism of the BDNF gene in 208 inpatients with paranoi... DisGeNET Detail
The objective of the present study was to identify, in a case-control study, whether the brain-deriv... DisGeNET Detail
The BDNF polymorphism Val66Met (rs6265) has been studied in the context of etiology of mental diseas... DisGeNET Detail
Two hundred and six patients with Diagnostic and Statistical Manual of Mental Disorders-IV MDD were ... DisGeNET Detail
Two hundred and six patients with Diagnostic and Statistical Manual of Mental Disorders-IV MDD were ... DisGeNET Detail
Two hundred and six patients with Diagnostic and Statistical Manual of Mental Disorders-IV MDD were ... DisGeNET Detail
Common genetic variants, such as the brain-derived neurotrophic factor (BDNF) Val/66/Met polymorphis... DisGeNET Detail
A single-nucleotide polymorphism (rs6265) in the human gene, resulting in a valine to methionine sub... DisGeNET Detail
However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response over 6 wk in clinica... DisGeNET Detail
About 62% of patients exhibiting the allelic combination of GG-GG-TT for rs6265, rs7430 and rs6313 o... DisGeNET Detail
However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response over 6 wk in clinica... DisGeNET Detail
In summary, BDNF rs6265 is differentially associated with obesity risk by sex and interacts with PUF... DisGeNET Detail
Brain-derived neurotrophic factor blood levels are decreased in schizophrenia patients and associate... DisGeNET Detail
In conclusions, the combined effect of BDNF rs6265 genotype (GG) and higher BMI may increases the ri... DisGeNET Detail
A genetic variant (rs6265) of the brain-derived neurotrophic factor (BDNF) impacting on emotion proc... DisGeNET Detail
[Preservation of gray matter volume in multiple sclerosis patients with the Met allele of the rs6265... DisGeNET Detail
Common genetic variants, such as the brain-derived neurotrophic factor (BDNF) Val/66/Met polymorphis... DisGeNET Detail
A genetic variant (rs6265) of the brain-derived neurotrophic factor (BDNF) impacting on emotion proc... DisGeNET Detail
Our findings support the association of BDNF single nucleotide polymorphism rs6265 and depression, s... DisGeNET Detail
Our findings support the association of BDNF single nucleotide polymorphism rs6265 and depression, s... DisGeNET Detail
[The findings support the association of several loci with AD, and suggest how intermediate phenotyp... DisGeNET Detail
Since our previous work on completed suicide in Slavic population showed an association of the funct... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Our study replicates the statistically significant association of four SNPs (FTO rs9939609, MC4R rs1... DisGeNET Detail
Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... DisGeNET Detail
Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally associated with risk ... 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
rs6265 dbSNP
Genome
hg19
Position
chr11:27,679,916-27,679,916
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
220.43
Standard deviation of sample read depth (HGVD)
94.88
Number of reference allele (HGVD)
1423
Number of alternative allele (HGVD)
997
Allele Frequency (HGVD)
0.41198347107438016
Gene Symbol (HGVD)
BDNF
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))
rs6265
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4089
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6852
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
4206
East Asian Heterozygous Counts (ExAC)
2132
East Asian Homozygous Counts (ExAC)
1037
East Asian Allele Frequency (ExAC)
0.4864677307425399
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
23511
Heterozygous Counts in All Race (ExAC)
17753
Homozygous Counts in All Race (ExAC)
2879
Allele Frequency in All Race (ExAC)
0.19374536464771322
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