chr2:111797458:A>G Detail (hg19) (ACOXL)

Information

Genome

Assembly Position
hg19 chr2:111,797,458-111,797,458
hg38 chr2:111,039,881-111,039,881 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001142807.1:c.1369+8167A>G
Ensemble ENST00000389811.8:c.1459+8167A>G
ENST00000439055.6:c.1369+8167A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.012
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
HGNC 25621 HGNC
Ensembl ENSG00000153093 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8172572 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
0.247 chronic lymphocytic leukemia Genome-wide association study identifies multiple risk loci for chronic lymphocy... GWASCAT 23770605 Detail
0.247 chronic lymphocytic leukemia Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic le... GWASCAT 22700719 Detail
0.247 chronic lymphocytic leukemia [A genome-wide association study identifies six susceptibility loci for chronic ... GAD 18758461 Detail
0.247 chronic lymphocytic leukemia A genome-wide association study identifies six susceptibility loci for chronic l... GWASCAT 18758461 Detail
0.009 chronic lymphocytic leukemia [A genome-wide association study identifies six susceptibility loci for chronic ... GAD 18758461 Detail
0.250 chronic lymphocytic leukemia We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2... GWASCAT 18758461 Detail
0.248 chronic lymphocytic leukemia We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2... BeFree 18758461 Detail
0.254 chronic lymphocytic leukemia We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2... BeFree 18758461 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. DisGeNET Detail
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. DisGeNET Detail
[A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia... DisGeNET Detail
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. DisGeNET Detail
[A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia... DisGeNET Detail
We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37... DisGeNET Detail
We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37... DisGeNET Detail
We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17483466 dbSNP
Genome
hg19
Position
chr2:111,797,458-111,797,458
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))
rs17483466
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0124
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
207
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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