chr9:22033366:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr9:22,033,366-22,033,366
hg38 chr9:22,033,367-22,033,367 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.847
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Glaucoma, Primary Open Angle The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... BeFree 22570617 Detail
0.001 Glaucoma, Primary Open Angle The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... BeFree 22570617 Detail
0.002 Glaucoma, Primary Open Angle The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... BeFree 22570617 Detail
0.121 Glioma Chromosome 7p11.2 (EGFR) variation influences glioma risk. GWASCAT 21531791 Detail
<0.001 Intraocular pressure disorder For 9 of the 10 protective CDKN2B-AS1 SNPs with minor alleles associated with re... BeFree 23111177 Detail
0.121 glaucoma Common variants at 9p21 and 8q22 are associated with increased susceptibility to... GWASCAT 22570617 Detail
<0.001 childhood brain tumor The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 ... BeFree 26014354 Detail
Annotation

Annotations

DescrptionSourceLinks
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... DisGeNET Detail
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... DisGeNET Detail
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... DisGeNET Detail
Chromosome 7p11.2 (EGFR) variation influences glioma risk. DisGeNET Detail
For 9 of the 10 protective CDKN2B-AS1 SNPs with minor alleles associated with reduced disease risk (... DisGeNET Detail
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degener... DisGeNET Detail
The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs21577... 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
rs2157719 dbSNP
Genome
hg19
Position
chr9:22,033,366-22,033,366
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2157719
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8467
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14190
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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