chr12:112521448:G>A Detail (hg19) (NAA25)

Information

Genome

Assembly Position
hg19 chr12:112,521,448-112,521,448
hg38 chr12:112,083,644-112,083,644 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024953.3:c.403-2510C>T
Ensemble ENST00000261745.9:c.403-2510C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.884
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 612755 OMIM
HGNC 25783 HGNC
Ensembl ENSG00000111300 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47271162 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 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.133 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.020 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.002 Head and Neck Neoplasms [A genome-wide association study of upper aerodigestive tract cancers conducted ... GAD 21437268 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
[A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE c... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4767364 dbSNP
Genome
hg19
Position
chr12:112,521,448-112,521,448
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))
rs4767364
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8838
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14813
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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