chr12:27501106:G>A Detail (hg19) (BMAL2)

Information

Genome

Assembly Position
hg19 chr12:27,501,106-27,501,106
hg38 chr12:27,348,173-27,348,173 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020183.4:c.31+15070G>A
NM_001248002.1:c.31+15070G>A
NM_001248003.1:c.64+15037G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.175
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 tgv45328293 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 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 Alcohol abuse ARNTL2 GT haplotype (rs7958822-rs4964057) associated suggestively with alcohol a... BeFree 20554694 Detail
Annotation

Annotations

DescrptionSourceLinks
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
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... DisGeNET Detail
ARNTL2 GT haplotype (rs7958822-rs4964057) associated suggestively with alcohol abuse diagnosis (P = ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7958822 dbSNP
Genome
hg19
Position
chr12:27,501,106-27,501,106
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs7958822
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1751
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2935
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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