chr3:111936542:T>C Detail (hg38) (PHLDB2)

Information

Genome

Assembly Position
hg19 chr3:111,655,389-111,655,389 View the variant detail on this assembly version.
hg38 chr3:111,936,542-111,936,542

HGVS

Type Transcript Protein
RefSeq NM_001134437.1:c.2083-2933T>C
NM_001134439.1:c.2131-2933T>C
NM_145753.2:c.2002-2933T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.771
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 610298 OMIM
HGNC 29573 HGNC
Ensembl ENSG00000144824 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv13761714 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 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
Annotation

Annotations

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs712507 dbSNP
Genome
hg38
Position
chr3:111,936,542-111,936,542
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs712507
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7714
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12928
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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