chr11:27726915:A>G Detail (hg19) (BDNF)

Information

Genome

Assembly Position
hg19 chr11:27,726,915-27,726,915
hg38 chr11:27,705,368-27,705,368 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001143805.1:c.-22+15276T>C
NM_001143806.1:c.-22+15061T>C
NM_170731.4:c.3+16044T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.547
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 tgv42011130 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 Methamphetamine abuse To test the hypothesis that the BDNF gene polymorphism is involved in methamphet... BeFree 25764907 Detail
<0.001 Methamphetamine abuse Within the methamphetamine-abuse group, subjects carrying the T allele of rs2030... BeFree 25764907 Detail
0.282 Alzheimer's disease Association of rs6265 and rs2030324 polymorphisms in brain-derived neurotrophic ... BeFree 24733169 Detail
Annotation

Annotations

DescrptionSourceLinks
To test the hypothesis that the BDNF gene polymorphism is involved in methamphetamine abuse, we comp... DisGeNET Detail
Within the methamphetamine-abuse group, subjects carrying the T allele of rs2030324 genotype had sig... DisGeNET Detail
Association of rs6265 and rs2030324 polymorphisms in brain-derived neurotrophic factor gene with Alz... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2030324 dbSNP
Genome
hg19
Position
chr11:27,726,915-27,726,915
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2030324
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5467
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9162
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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