chr11:123361397:G>A Detail (hg19) (GRAMD1B)

Information

Genome

Assembly Position
hg19 chr11:123,361,397-123,361,397
hg38 chr11:123,490,689-123,490,689 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001330396.1:c.-98+9796G>A
Ensemble ENST00000638157.1:c.-98+9796G>A
ENST00000635736.2:c.452+9796G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 620179 OMIM
HGNC 29214 HGNC
Ensembl ENSG00000023171 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44346004 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
0.127 chronic lymphocytic leukemia A genome-wide association study identifies multiple susceptibility loci for chro... GWASCAT 24292274 Detail
0.127 chronic lymphocytic leukemia Genome-wide association study identifies multiple risk loci for chronic lymphocy... GWASCAT 23770605 Detail
0.002 Lymphoma, Follicular [Genome-wide association study of follicular lymphoma identifies a risk locus at... GAD 20639881 Detail
0.002 chronic lymphocytic leukemia [A genome-wide association study identifies six susceptibility loci for chronic ... GAD 18758461 Detail
0.120 Lymphoma, Follicular Genome-wide association study of follicular lymphoma identifies a risk locus at ... GWASCAT 20639881 Detail
0.127 chronic lymphocytic leukemia [A genome-wide association study identifies six susceptibility loci for chronic ... GAD 18758461 Detail
0.127 chronic lymphocytic leukemia Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic le... GWASCAT 22700719 Detail
0.127 chronic lymphocytic leukemia A genome-wide association study identifies six susceptibility loci for chronic l... GWASCAT 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
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk... DisGeNET Detail
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. DisGeNET Detail
[Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32.] DisGeNET Detail
[A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia... DisGeNET Detail
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. DisGeNET Detail
[A genome-wide association study identifies six susceptibility 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
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
rs735665 dbSNP
Genome
hg19
Position
chr11:123,361,397-123,361,397
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))
rs735665
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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