chr2:182252877:G>A Detail (hg38) (PDE1A)

Information

Genome

Assembly Position
hg19 chr2:183,117,604-183,117,604 View the variant detail on this assembly version.
hg38 chr2:182,252,877-182,252,877

HGVS

Type Transcript Protein
RefSeq NM_001258313.1:c.167+11424C>T
NM_001003683.2:c.215+11424C>T
NM_001258312.1:c.215+11424C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.252
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 171890 OMIM
HGNC 8774 HGNC
Ensembl ENSG00000115252 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9749598 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
0.007 Unipolar Depression To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.012 major depressive disorder To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.011 Unipolar Depression To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.155 major depressive disorder To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1549870 dbSNP
Genome
hg38
Position
chr2:182,252,877-182,252,877
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))
rs1549870
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2521
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4226
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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