chr16:3983435:T>C Detail (hg38) (ADCY9)

Information

Genome

Assembly Position
hg19 chr16:4,033,436-4,033,436 View the variant detail on this assembly version.
hg38 chr16:3,983,435-3,983,435

HGVS

Type Transcript Protein
RefSeq NM_001116.3:c.2316A>G NP_001107.2:p.Ile772Met
Ensemble ENST00000294016.8:c.2316A>G ENST00000294016.8:p.Ile772Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.372
ToMMo:0.360
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.485

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603302 OMIM
HGNC 240 HGNC
Ensembl ENSG00000162104 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv54477876 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 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
-
Genome
hg38
Position
chr16:3,983,435-3,983,435
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1164
Mean of sample read depth (HGVD)
47.28
Standard deviation of sample read depth (HGVD)
18.56
Number of reference allele (HGVD)
1461
Number of alternative allele (HGVD)
867
Allele Frequency (HGVD)
0.37242268041237114
Gene Symbol (HGVD)
ADCY9
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))
rs2230739
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3604
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6041
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
5910
East Asian Allele Counts (ExAC)
2869
East Asian Heterozygous Counts (ExAC)
1699
East Asian Homozygous Counts (ExAC)
585
East Asian Allele Frequency (ExAC)
0.48544839255499156
Chromosome Counts in All Race (ExAC)
76282
Allele Counts in All Race (ExAC)
27251
Heterozygous Counts in All Race (ExAC)
19245
Homozygous Counts in All Race (ExAC)
4003
Allele Frequency in All Race (ExAC)
0.357240240161506
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