chr9:125136884:A>G Detail (hg19) (PTGS1)

Information

Genome

Assembly Position
hg19 chr9:125,136,884-125,136,884
hg38 chr9:122,374,605-122,374,605 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000962.3:c.95-3294A>G
NM_001271367.1:c.95-3294A>G
NM_080591.2:c.95-3294A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.920
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 176805 OMIM
HGNC 9604 HGNC
Ensembl ENSG00000095303 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37534053 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
0.002 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
<0.001 Rectal Carcinoma Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... BeFree 25304949 Detail
Annotation

Annotations

DescrptionSourceLinks
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1213266 dbSNP
Genome
hg19
Position
chr9:125,136,884-125,136,884
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs1213266
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9199
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15417
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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