chr9:22003368:G>A Detail (hg38) (CDKN2B, CDKN2B-AS1)

Information

Genome

Assembly Position
hg19 chr9:22,003,367-22,003,367 View the variant detail on this assembly version.
hg38 chr9:22,003,368-22,003,368

HGVS

Type Transcript Protein
RefSeq NM_004936.3:c.*2619C>T
NM_078487.2:c.*2619C>T
Ensemble ENST00000276925.7:c.*2619C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.796
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic; protective
Review star
Show details
Links
Type Database ID Link
Gene MIM 600431 OMIM
HGNC 1788 HGNC
Ensembl ENSG00000147883 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35781689 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective no assertion criteria provided Three Vessel Coronary Disease somatic Detail
Likely pathogenic 2023-07-01 no assertion criteria provided somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Glaucoma, Primary Open Angle SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were als... BeFree 21398277 Detail
0.002 Glaucoma, Primary Open Angle SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were als... BeFree 21398277 Detail
0.001 Glaucoma, Primary Open Angle SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were als... BeFree 21398277 Detail
<0.001 low tension glaucoma The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
0.003 Glaucoma, Open-Angle [A genome-wide association study in the Japanese population confirms 9p21 and 14... GAD 22419738 Detail
0.241 glaucoma A genome-wide association study in the Japanese population confirms 9p21 and 14q... GWASCAT 22419738 Detail
<0.001 low tension glaucoma The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
0.001 Neoplasm Metastasis On the other hand, patients with the polymorphic CDKN2B gene (rs1063192) present... BeFree 25565272 Detail
0.121 glaucoma A genome-wide association study in the Japanese population confirms 9p21 and 14q... GWASCAT 22419738 Detail
<0.001 low tension glaucoma The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
<0.001 childhood brain tumor The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 ... BeFree 26014354 Detail
<0.001 Intraocular pressure disorder The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic ... BeFree 22584021 Detail
0.003 Glaucoma, Open-Angle The CDKN2B variant rs1063192 also was found to be associated more strongly with ... BeFree 22840486 Detail
<0.001 Glaucoma, Primary Open Angle The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduc... BeFree 22761751 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
NM_004936.4(CDKN2B):c.*2619C>T AND Three Vessel Coronary Disease ClinVar Detail
NM_004936.4(CDKN2B):c.*2619C>T AND Malignant tumor of breast ClinVar Detail
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with PO... DisGeNET Detail
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with PO... DisGeNET Detail
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with PO... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
[A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibilit... DisGeNET Detail
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
On the other hand, patients with the polymorphic CDKN2B gene (rs1063192) presented distant metastase... DisGeNET Detail
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs21577... DisGeNET Detail
The rs1063192 (CDKN2B) and rs1900004 (ATOH7) seem to be non-IOP-related genetic risk factors for NTG... DisGeNET Detail
The CDKN2B variant rs1063192 also was found to be associated more strongly with advanced OAG. DisGeNET Detail
The minor allele of rs1063192 interacts with that of rs7916697 (ATOH7)) to reduce POAG risk. 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 Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1063192 dbSNP
Genome
hg38
Position
chr9:22,003,368-22,003,368
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))
rs1063192
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7963
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13345
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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