chr12:99132112:T>C Detail (hg19) (ANKS1B)

Information

Genome

Assembly Position
hg19 chr12:99,132,112-99,132,112
hg38 chr12:98,738,334-98,738,334 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_152788.4:c.3673-2700A>G
NM_001204081.1:c.691-2700A>G
NM_020140.3:c.1171-2700A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.261
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 607815 OMIM
HGNC 24600 HGNC
Ensembl ENSG00000185046 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46946285 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
0.010 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.006 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.003 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.005 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.124 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
Annotation

Annotations

DescrptionSourceLinks
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17028658 dbSNP
Genome
hg19
Position
chr12:99,132,112-99,132,112
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs17028658
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2613
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4379
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser