chr22:29100711:T>C Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,100,711-29,100,711
hg38 chr22:28,704,723-28,704,723 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.847-1157A>G
NM_145862.2:c.847-1157A>G
NM_001005735.1:c.976-1157A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.890
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 604373 OMIM
HGNC 16627 HGNC
Ensembl ENSG00000183765 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65643361 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 low tension glaucoma The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
<0.001 low tension glaucoma The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
<0.001 low tension glaucoma The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
<0.001 Intraocular pressure disorder The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
<0.001 Intraocular pressure disorder The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
<0.001 Intraocular pressure disorder The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
Annotation

Annotations

DescrptionSourceLinks
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1547014 dbSNP
Genome
hg19
Position
chr22:29,100,711-29,100,711
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))
rs1547014
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8902
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14920
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser