chr12:27402904:C>T Detail (hg38) (BMAL2)

Information

Genome

Assembly Position
hg19 chr12:27,555,837-27,555,837 View the variant detail on this assembly version.
hg38 chr12:27,402,904-27,402,904

HGVS

Type Transcript Protein
RefSeq NM_020183.4:c.1477+227C>T
NM_001248002.1:c.1435+227C>T
NM_001248003.1:c.1366+227C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.647
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 614517 OMIM
HGNC 18984 HGNC
Ensembl ENSG00000029153 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45329736 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 alcohol use disorder Concerning anxiety disorders and alcohol use disorders, the current findings are... BeFree 22538398 Detail
<0.001 Phobia, Social Single nucleotide polymorphisms in two genes showed some evidence for associatio... BeFree 20122683 Detail
<0.001 Alcohol abuse Concerning anxiety disorders and alcohol use disorders, the current findings are... BeFree 22538398 Detail
<0.001 Phobia, Social Concerning anxiety disorders and alcohol use disorders, the current findings are... BeFree 22538398 Detail
<0.001 Phobia, Social Single nucleotide polymorphisms in two genes showed some evidence for associatio... BeFree 20122683 Detail
Annotation

Annotations

DescrptionSourceLinks
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... DisGeNET Detail
Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: ... DisGeNET Detail
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... DisGeNET Detail
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... DisGeNET Detail
Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2306073 dbSNP
Genome
hg38
Position
chr12:27,402,904-27,402,904
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))
rs2306073
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.647
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10844
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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