chr11:72662452:T>G Detail (hg38) (PDE2A)

Information

Genome

Assembly Position
hg19 chr11:72,373,496-72,373,496 View the variant detail on this assembly version.
hg38 chr11:72,662,452-72,662,452

HGVS

Type Transcript Protein
RefSeq NM_002599.4:c.71+11685A>C
NM_001146209.2:c.44+5846A>C
Ensemble ENST00000334456.10:c.71+11685A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.300
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 602658 OMIM
HGNC 8777 HGNC
Ensembl ENSG00000186642 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43147084 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
0.122 rheumatoid arthritis [Our study identified nine loci newly associated with rheumatoid arthritis at a ... GAD 22446963 Detail
0.122 rheumatoid arthritis Our study identified nine loci newly associated with rheumatoid arthritis at a t... GWASCAT 22446963 Detail
0.129 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.006 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.248 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.123 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
<0.001 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.168 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.123 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
Annotation

Annotations

DescrptionSourceLinks
[Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0... DisGeNET Detail
Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P &lt; 5... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3781913 dbSNP
Genome
hg38
Position
chr11:72,662,452-72,662,452
Variant Type
snv
Reference Allele
T
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))
rs3781913
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5034
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser